ID   ERPLi001-A
AC   CVCL_YT20
SY   AR28072001
DR   hPSCreg; ERPLi001-A
DR   SKIP; SKIP005737
DR   Wikidata; Q93541812
RX   PubMed=32278301;
CC   From: Eyestem Research Private Ltd; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.5018+5G>A; ClinVar=VCV000438098; Zygosity=Heterozygous (PubMed=32278301).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32278301
ST   Amelogenin: X
ST   CSF1PO: 8,11
ST   D13S317: 8,9
ST   D16S539: 12
ST   D18S51: 15
ST   D19S433: 13,14.2
ST   D21S11: 28,29
ST   D2S1338: 24
ST   D3S1358: 15,17
ST   D5S818: 12,13
ST   D7S820: 8,10
ST   D8S1179: 8,15
ST   FGA: 19,24
ST   TH01: 8,9
ST   TPOX: 9,10
ST   vWA: 15,16
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
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).
//