ID   WTSIi253-A-2
AC   CVCL_C1XT
SY   UMANi254-A-2
DR   hPSCreg; WTSIi253-A-2
DR   Wikidata; Q114313242
RX   PubMed=35933957;
CC   From: University of Manchester; Manchester; United Kingdom.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple_edited; p.Ser192Tyr (c.575C>A); ClinVar=VCV000003778; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35933957).
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (PubMed=35933957).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168731; Oculocutaneous albinism type 1A
DI   ORDO; Orphanet_79431; Oculocutaneous albinism type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EE95 ! HPSI0514i-letw_5
SX   Male
AG   70-74Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35933957; DOI=10.1016/j.scr.2022.102880;
RA   Liu J.-S., Black G.C., Kimber S.J., Sergouniotis P.I.;
RT   "Generation of a human induced pluripotent stem cell line carrying the
RT   TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in
RT   homozygous state using CRISPR-Cas9 genome editing.";
RL   Stem Cell Res. 64:102880-102880(2022).
//