ID   LEIi012-B
AC   CVCL_YT08
SY   1357iPS11
DR   hPSCreg; LEIi012-B
DR   Wikidata; Q95982065
RX   PubMed=32810830;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Val256Val (c.768G>T); ClinVar=VCV000099505; Zygosity=Heterozygous; Note=Affects splicing (PubMed=32810830).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Leu2027Phe (c.6079C>T); ClinVar=VCV000007882; Zygosity=Heterozygous (PubMed=32810830).
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_YT07 ! LEIi012-A
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32810830; DOI=10.1016/j.scr.2020.101947;
RA   Jennings L., Zhang D., Chen S.-C., Moon S.Y., Lamey T.M., Thompson J.A.,
RA   McLaren T.L., De Roach J.N., Chen F.K., McLenachan S.;
RT   "Generation of two induced pluripotent stem cell lines from a patient
RT   with Stargardt macular dystrophy caused by the c.768G>T and c.6079C>T
RT   mutations in ABCA4.";
RL   Stem Cell Res. 48:101947-101947(2020).
//