Cellosaurus cell line IMBPASi001-A (CVCL

Cellosaurus IMBPASi001-A (CVCL_YT29)

Cross-references
Cell line name	IMBPASi001-A
Synonyms	iPSC-WFS1-#1
Accession	CVCL_YT29
Resource Identification Initiative	To cite this cell line use: IMBPASi001-A (RRID:CVCL_YT29)
Comments	From: Institute of Medical Biology of Polish Academy of Sciences; Lodz; Poland. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (PubMed=32521500). Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (PubMed=32521500). Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (PubMed=32521500).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_1D23 (GM01610)
Sex of cell	Female
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=32521500; DOI=10.1016/j.scr.2020.101858 Dawid Pawel Grzela, Beata Marciniak, Lukasz Pulaski; Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram syndrome. Stem Cell Res. 46:101858-101858(2020)
Cell line databases/resources	hPSCreg; IMBPASi001-A
Biological sample resources	BioSamples; SAMEA6877873
Encyclopedic resources	Wikidata; Q94316000
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9