Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene

We present two CRISPR/Cas9-modified human iPSC lines with a heterozygous frameshift mutation (NM_006662.3:c.7300_7301insA) in the FLHS-locus of the SRCAP gene, which is associated with Floating-Harbor syndrome, a congenital neurodevelopmental disorder with symptoms including short stature and intell...

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Bibliographic Details
Main Authors: J. Rhode, S. Edwards, A. Tzvetkova, L.R. Jensen, M.F. Hossain, B. Nowack, L. Hagenau, A.W. Kuss
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506125000807
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