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

• Published in: Stem cell research Vol. 49; p. 102028
• Main Authors: Franz, M., Hagenau, L., Koch, R., Neubauer, S., Nowack, B., Tzvetkova, A., Jensen, L.R., Kuss, A.W.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-12-2020; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2020.102028

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.