ID   LEIi017-A
AC   CVCL_A8MI
SY   1629ips9
DR   hPSCreg; LEIi017-A
DR   Wikidata; Q108820784
RX   PubMed=34198153;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Arg152Gln (c.455G>A); ClinVar=VCV000099301; Zygosity=Heterozygous (PubMed=34198153).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Leu1388Pro (c.4163T>C); ClinVar=VCV000099254; Zygosity=Heterozygous (PubMed=34198153).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34198153).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34198153).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A8MJ ! LEIi017-B
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34198153; DOI=10.1016/j.scr.2021.102448;
RA   Huang D., Zhang D., Chen S.-C., Aung-Htut M.T., Lamey T.M.,
RA   Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Wilton S.D.,
RA   Chen F.K., McLenachan S.;
RT   "Generation of two induced pluripotent stem cell lines from a patient
RT   with Stargardt disease caused by compound heterozygous mutations in
RT   the ABCA4 gene.";
RL   Stem Cell Res. 54:102448-102448(2021).
//