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; HGNC:34; ABCA4; Simple; c.5461-10T>C; ClinVar=VCV000092870; Zygosity=Heterozygous (PubMed=34214897).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Asn1868Ile (c.5603A>T); ClinVar=VCV000099390; Zygosity=Heterozygous (PubMed=34214897).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 6
//
RX   PubMed=34214897; DOI=10.1016/j.scr.2021.102439;
RA   Huang, Di
RA   Zhang, Dan
RA   Chen, Shang-Chih
RA   Thandar Aung-Htut, May
RA   Lamey, Tina M.
RA   Thompson, Jennifer A.
RA   McLaren, Terri L.
RA   De Roach, John N.
RA   Fletcher, Susan
RA   Wilton, Stephen Donald
RA   McLenachan, Samuel
RA   Chen, Fred 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).
//