ID   ERPLi002-A
AC   CVCL_YT21
SY   PD24072008
DR   hPSCreg; ERPLi002-A
DR   SKIP; SKIP005736
DR   Wikidata; Q93541815
RX   PubMed=32278301;
CC   From: Eyestem Research Private Ltd; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 19977; RDH12; Simple; p.Ser13Ter (c.38C>A); ClinVar=VCV000977812; Zygosity=Homozygous (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: 8,11
ST   D16S539: 10,14
ST   D18S51: 15
ST   D19S433: 13,14.2
ST   D21S11: 31.2,33.2
ST   D2S1338: 17,20
ST   D3S1358: 15
ST   D5S818: 10,13
ST   D7S820: 11,13
ST   D8S1179: 11,13
ST   FGA: 20,22
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 15,16
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
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).
//