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, Johann N.
RA   Zhang, Dan
RA   Chen, Shang-Chih
RA   Moon, Sang Yoon
RA   Lamey, Tina M.
RA   Thompson, Jennifer A.
RA   McLaren, Terri L.
RA   De Roach, John N.
RA   McLenachan, Samuel
RA   Chen, Fred 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).
//