Cellosaurus cell line WTSIi253-A-2 (CVCL

Cross-references
Cell line name	WTSIi253-A-2
Synonyms	UMANi254-A-2
Accession	CVCL_C1XT
Resource Identification Initiative	To cite this cell line use: WTSIi253-A-2 (RRID:CVCL_C1XT)
Comments	From: University of Manchester; Manchester; United Kingdom. Population: Caucasian; British. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12442; TYR; Simple_edited; p.Ser192Tyr (c.575C>A); ClinVar=VCV000003778; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35933957). Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (PubMed=35933957).
Disease	Oculocutaneous albinism type 1A (NCIt: C168731) Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_EE95 (HPSI0514i-letw_5)
Sex of cell	Male
Age at sampling	70-74Y
Category	Induced pluripotent stem cell
Publications	PubMed=35933957; DOI=10.1016/j.scr.2022.102880 Jing-Shu Liu, Graeme Charles Black, Susan J. Kimber, Panagiotis I. Sergouniotis; Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing. Stem Cell Res. 64:102880-102880(2022)
Cell line databases/resources	hPSCreg; WTSIi253-A-2
Encyclopedic resources	Wikidata; Q114313242
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5