Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients

Klinefelter Syndrome (KS) is an aneuploid genetic condition in males characterized by at least one additional copy of the X chromosome. Due to fibrotic degeneration of the testis, these patients suffer infertility in the future. The pathogenic mechanism by which this occurs is still not well known....

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Main Authors: Myriam Martin-Inaraja, Irene Romayor, Andrea Sáez de Cámara, Lara Herrera, Ainhoa Palacios, Maria Villaverde, Silvia Santos, Miguel Ángel Vesga, Beatriz Barreña, Ana María Aransay, Juan Anguita, Estíbaliz Solorzano, María Begoña Prieto, Roberto Matorras, Cristina Eguizabal
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000078
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author Myriam Martin-Inaraja
Irene Romayor
Andrea Sáez de Cámara
Lara Herrera
Ainhoa Palacios
Maria Villaverde
Silvia Santos
Miguel Ángel Vesga
Beatriz Barreña
Ana María Aransay
Juan Anguita
Estíbaliz Solorzano
María Begoña Prieto
Roberto Matorras
Cristina Eguizabal
author_facet Myriam Martin-Inaraja
Irene Romayor
Andrea Sáez de Cámara
Lara Herrera
Ainhoa Palacios
Maria Villaverde
Silvia Santos
Miguel Ángel Vesga
Beatriz Barreña
Ana María Aransay
Juan Anguita
Estíbaliz Solorzano
María Begoña Prieto
Roberto Matorras
Cristina Eguizabal
author_sort Myriam Martin-Inaraja
collection DOAJ
description Klinefelter Syndrome (KS) is an aneuploid genetic condition in males characterized by at least one additional copy of the X chromosome. Due to fibrotic degeneration of the testis, these patients suffer infertility in the future. The pathogenic mechanism by which this occurs is still not well known. Here, we establish three Induced Pluripotent Stem cell (iPSC) lines derived from prepuberal and peripuberal KS patient’s testicular somatic cells. These could be the first steps towards the creation of an in vitro platform to analyze the molecular mechanisms underlying pathophysiology of the testes in KS patients.
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series Stem Cell Research
spelling doaj-art-fa65d0e365684a09b81b62bb37a57c082025-08-20T02:43:20ZengElsevierStem Cell Research1873-50612025-03-018310365710.1016/j.scr.2025.103657Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patientsMyriam Martin-Inaraja0Irene Romayor1Andrea Sáez de Cámara2Lara Herrera3Ainhoa Palacios4Maria Villaverde5Silvia Santos6Miguel Ángel Vesga7Beatriz Barreña8Ana María Aransay9Juan Anguita10Estíbaliz Solorzano11María Begoña Prieto12Roberto Matorras13Cristina Eguizabal14Cell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, SpainGenetics Unit, Hospital de Basurto, Bilbao, SpainGenomic Analysis Platform, CIC Biogune-BRTA, Derio 48160, Spain; CIBERehd, Instituto de Salud Carlos III, Madrid 28029, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, SpainInflammation and Macrophage Plasticity Laboratory, CIC bioGUNE-BRTA (Basque Research and Technology Alliance), Derio 48160, Spain; Ikerbasque, Basque Foundation for Science, Bilbao 48013, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, SpainBiobizkaia Health Research Institute. Cruces University Hospital, Pediatric Surgery Department, Barakaldo, SpainBiobizkaia Health Research Institute. Cruces University Hospital, Department of Obstetrics and Gynecology, Human Reproduction Unit, Barakaldo 48903-Basque Country University. IVI Bilbao, IVIRMA, Leioa, Vizcaya, SpainBiobizkaia Health Research Institute. Cruces University Hospital, Department of Obstetrics and Gynecology, Human Reproduction Unit, Barakaldo 48903-Basque Country University. IVI Bilbao, IVIRMA, Leioa, Vizcaya, SpainCell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute Barakaldo, Spain; Advanced Therapies Unit, Basque Center for Blood Transfusion and Human Tissues, Osakidetza, Galdakao, Spain; Red Española de Terapias Avanzadas (TERAV), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS RD21/0017/0024, RD24/0014/0025), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Corresponding author: Advanced Therapies Unit, Basque Centre for Blood Transfusion and Human Tissues, Barrio Labeaga 46A, Galdakao 48960, Spain; Cell Therapy, Stem Cells and Tissues Group, Biobizkaia Health Research Institute, Barakaldo, Spain. Tel.: +34 944007151; Fax: +34 944007160 (C. Eguizabal).Klinefelter Syndrome (KS) is an aneuploid genetic condition in males characterized by at least one additional copy of the X chromosome. Due to fibrotic degeneration of the testis, these patients suffer infertility in the future. The pathogenic mechanism by which this occurs is still not well known. Here, we establish three Induced Pluripotent Stem cell (iPSC) lines derived from prepuberal and peripuberal KS patient’s testicular somatic cells. These could be the first steps towards the creation of an in vitro platform to analyze the molecular mechanisms underlying pathophysiology of the testes in KS patients.http://www.sciencedirect.com/science/article/pii/S1873506125000078
spellingShingle Myriam Martin-Inaraja
Irene Romayor
Andrea Sáez de Cámara
Lara Herrera
Ainhoa Palacios
Maria Villaverde
Silvia Santos
Miguel Ángel Vesga
Beatriz Barreña
Ana María Aransay
Juan Anguita
Estíbaliz Solorzano
María Begoña Prieto
Roberto Matorras
Cristina Eguizabal
Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
Stem Cell Research
title Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
title_full Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
title_fullStr Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
title_full_unstemmed Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
title_short Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
title_sort generation establishment and characterization of three pluripotent stem cell lines cvtthi002 a cvtthi003 a and cvtthi004 a from primary testicular somatic cells isolated from two prepuberal and one peripuberal klinefelter syndrome 47 xxy patients
url http://www.sciencedirect.com/science/article/pii/S1873506125000078
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