ID   ERPLi003-A
AC   CVCL_YT22
SY   TS30072010; RS30072010
DR   hPSCreg; ERPLi003-A
DR   SKIP; SKIP005735
DR   Wikidata; Q93541819
RX   PubMed=32278301;
CC   From: Eyestem Research Private Ltd; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Cys91Tyr (c.272G>A); ClinVar=VCV000039977; Zygosity=Heterozygous (PubMed=32278301).
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Arg278Ter (c.832C>T); ClinVar=VCV000099583; Zygosity=Heterozygous (PubMed=32278301).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32278301
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 11,12
ST   D18S51: 13,17
ST   D19S433: 13,14
ST   D21S11: 31,31.2
ST   D2S1338: 20,21
ST   D3S1358: 18
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   D8S1179: 9,15
ST   FGA: 23,25
ST   TH01: 6
ST   TPOX: 9,11
ST   vWA: 14,18
DI   NCIt; C168731; Oculocutaneous albinism type 1A
DI   ORDO; Orphanet_79431; Oculocutaneous albinism type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32278301; DOI=10.1016/j.scr.2020.101757;
RA   Konala V.B.R., Nandakumar S., Battu R., Pal R.;
RT   "Derivation of three induced pluripotent stem cell lines under
RT   feeder-free culture conditions from peripheral blood mononuclear cells
RT   (PBMC) of Indian patients suffering from inherited retinal diseases
RT   carrying different mutations.";
RL   Stem Cell Res. 45:101757-101757(2020).
//