ID   SEIi001-A
AC   CVCL_UJ70
SY   SEIOA1#1
DR   hPSCreg; SEIi001-A
DR   Wikidata; Q98132441
RX   PubMed=30513407;
CC   From: UCLA Stein Eye Institute; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 20145; GPR143; Simple; c.885+748G>A (g.25288G>A); ClinVar=VCV001408135; Zygosity=Hemizygous; Note=Creates an acceptor splice site (PubMed=30513407).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118785; Ocular albinism type 1
DI   ORDO; Orphanet_54; X-linked recessive ocular albinism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 9
//
RX   PubMed=30513407; DOI=10.1016/j.scr.2018.11.016;
RA   Baulier E., Garcia-Diaz A., Corneo B., Farber D.B.;
RT   "Generation of a human ocular albinism type 1 iPSC line, SEIi001-A,
RT   with a mutation in GPR143.";
RL   Stem Cell Res. 33:274-277(2018).
//