ID   LEIi018-A
AC   CVCL_A8MK
SY   1607ips6
DR   hPSCreg; LEIi018-A
DR   Wikidata; Q108820786
RX   PubMed=34214897;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34214897).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34214897).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Leu2026Pro (c.6077T>C); ClinVar=VCV000236144; Zygosity=Heterozygous (PubMed=34214897).
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)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34214897; DOI=10.1016/j.scr.2021.102439;
RA   Huang D., Zhang D., Chen S.-C., Thandar Aung-Htut M., Lamey T.M.,
RA   Thompson J.A., McLaren T.L., De Roach J.N., Fletcher S., Wilton S.D.,
RA   McLenachan S., Chen F.K.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with Stargardt disease caused by biallelic
RT   c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.";
RL   Stem Cell Res. 54:102439-102439(2021).
//