Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant
Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts f...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001199 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849320596684406784 |
|---|---|
| author | Huan Zhang Chantal C. Clark Elise J. Huisman Marieke von Lindern Marjon H. Cnossen Emile van den Akker Eszter Varga |
| author_facet | Huan Zhang Chantal C. Clark Elise J. Huisman Marieke von Lindern Marjon H. Cnossen Emile van den Akker Eszter Varga |
| author_sort | Huan Zhang |
| collection | DOAJ |
| description | Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts from the patient’s peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers. |
| format | Article |
| id | doaj-art-aa2673ac46f842aa85fbf1bc70a1d7f7 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-aa2673ac46f842aa85fbf1bc70a1d7f72025-08-20T03:50:01ZengElsevierStem Cell Research1873-50612025-09-018710376910.1016/j.scr.2025.103769Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variantHuan Zhang0Chantal C. Clark1Elise J. Huisman2Marieke von Lindern3Marjon H. Cnossen4Emile van den Akker5Eszter Varga6Sanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The NetherlandsSanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Center for Benign Hematology, Thrombosis and Hemostasis - Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The NetherlandsDepartment of Pediatric Hematology and Oncology, Erasmus MC Sophia Children’s Hospital, University Medical Center, Rotterdam, The NetherlandsSanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The NetherlandsDepartment of Pediatric Hematology and Oncology, Erasmus MC Sophia Children’s Hospital, University Medical Center, Rotterdam, The NetherlandsSanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The NetherlandsSanquin Research and Landsteiner Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Corresponding author.Germline mutations in ETV6, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous ETV6 c.1105C > T missense mutation. Proerythroblasts from the patient’s peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers.http://www.sciencedirect.com/science/article/pii/S1873506125001199 |
| spellingShingle | Huan Zhang Chantal C. Clark Elise J. Huisman Marieke von Lindern Marjon H. Cnossen Emile van den Akker Eszter Varga Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant Stem Cell Research |
| title | Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant |
| title_full | Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant |
| title_fullStr | Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant |
| title_full_unstemmed | Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant |
| title_short | Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant |
| title_sort | generation and characterization of human ipsc line sani012 a from a patient with an inherited platelet disorder carrying the heterozygous etv6 c 1105c t variant |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125001199 |
| work_keys_str_mv | AT huanzhang generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT chantalcclark generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT elisejhuisman generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT mariekevonlindern generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT marjonhcnossen generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT emilevandenakker generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant AT esztervarga generationandcharacterizationofhumanipsclinesani012afromapatientwithaninheritedplateletdisordercarryingtheheterozygousetv6c1105ctvariant |