ID   IMBPASi001-A
AC   CVCL_YT29
SY   iPSC-WFS1-#1
DR   BioSamples; SAMEA6877873
DR   hPSCreg; IMBPASi001-A
DR   Wikidata; Q94316000
RX   PubMed=32521500;
CC   From: Institute of Medical Biology of Polish Academy of Sciences; Lodz; Poland.
CC   Sequence variation: Mutation; HGNC; 12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (PubMed=32521500).
CC   Sequence variation: Mutation; HGNC; 12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (PubMed=32521500).
CC   Sequence variation: Mutation; HGNC; 12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (PubMed=32521500).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1D23 ! GM01610
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32521500; DOI=10.1016/j.scr.2020.101858;
RA   Grzela D.P., Marciniak B., Pulaski L.;
RT   "Characterization of an induced pluripotent stem cell line
RT   (IMBPASi001-A) derived from fibroblasts of a patient affected by
RT   Wolfram syndrome.";
RL   Stem Cell Res. 46:101858-101858(2020).
//