Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)


Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival fibroblasts of a male patient with a heterozygous mutation in exon 34 of the SRCAP gene (c.7330C > T, p.Arg2444*). The iPSC colonies have an atypical morphology with diffuse borders and disintegrate quickly upon touch. Still, the cell line expresses pluripotency markers and differentiates into three germ layers. The cell line can be used as patient-specific disease model and help elucidate the molecular mechanisms involving SRCAP in the context of FLHS. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Franz M, Hagenau L, Koch R, Neubauer S, Nowack B, Tzvetkova A, Jensen LR, Kuss AW
Journal Stem cell research
Publication Date 2020 Dec;49:102028
PubMed 33099107
DOI 10.1016/j.scr.2020.102028

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