ID   UMGWi001-B
AC   CVCL_A1XF
SY   Z1-K3v3; Z1 K3v3
DR   BioSamples; SAMEA7222557
DR   hPSCreg; UMGWi001-B
DR   Wikidata; Q105511626
RX   PubMed=33099107;
CC   From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany.
CC   Sequence variation: Mutation; HGNC; 16974; SRCAP; Simple; p.Arg2444Ter (c.7330C>T); ClinVar=VCV000030908; Zygosity=Heterozygous (PubMed=33099107).
CC   Derived from site: In situ; Oral cavity, gingiva; UBERON=UBERON_0001828.
CC   Cell type: Fibroblast of gingiva; CL=CL_0002552.
DI   NCIt; C175241; Floating-Harbor syndrome
DI   ORDO; Orphanet_2044; Floating-Harbor syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33099107; DOI=10.1016/j.scr.2020.102028;
RA   Franz M., Hagenau L., Koch R., Neubauer S., Nowack B., Tzvetkova A.,
RA   Jensen L.R., Kuss A.W.;
RT   "Generation of an iPSC line (UMGWi001-B) from a patient with
RT   Floating-Harbor syndrome (FLHS) carrying a heterozygous SRCAP mutation
RT   (p.Arg2444).";
RL   Stem Cell Res. 49:102028-102028(2020).
//