Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
28
07
2020
revised:
28
09
2020
accepted:
04
10
2020
pubmed:
26
10
2020
medline:
22
6
2021
entrez:
25
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33099107
pii: S1873-5061(20)30329-9
doi: 10.1016/j.scr.2020.102028
pii:
doi:
Substances chimiques
Adenosine Triphosphatases
EC 3.6.1.-
SRCAP protein, human
EC 3.6.4.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102028Informations de copyright
Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.