ID   LEIi007-A
AC   CVCL_UM07
SY   1082ips10; 1082IPS10
DR   hPSCreg; LEIi007-A
DR   Wikidata; Q95982055
RX   PubMed=30634128;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Pro1380Leu (c.4139C>T); ClinVar=VCV000007904; Zygosity=Heterozygous (PubMed=30634128).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=30634128).
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   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30634128; DOI=10.1016/j.scr.2018.11.013;
RA   Claassen J.N., Zhang D., Chen S.-C., Moon S.Y., Lamey T.M.,
RA   Thompson J.A., McLaren T.L., De Roach J.N., McLenachan S., Chen F.K.;
RT   "Generation of the induced pluripotent stem cell line from a patient
RT   with autosomal recessive ABCA4-mediated Stargardt macular dystrophy.";
RL   Stem Cell Res. 34:101352-101352(2019).
//