ID   LVPEIi007-A
AC   CVCL_D6MV
SY   LVIP01-SD1-1; ABCA4-/-C1
DR   BioSamples; SAMEA115082726
DR   hPSCreg; LVPEIi007-A
DR   Wikidata; Q127382714
RX   PubMed=36306781;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Arg2030Ter (c.6088C>T); ClinVar=VCV000007907; Zygosity=Homozygous (PubMed=36306781).
CC   Derived from site: In situ; Ear, skin, epidermis; UBERON=UBERON_0001459+UBERON_0001003.
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_D6MY ! LVPEIi007-B
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=36306781; DOI=10.1016/j.stemcr.2022.10.001; PMCID=PMC9669500;
RA   Farnoodian M., Bose D., Khristov V., Susaimanickam P.J., Maddileti S.,
RA   Mariappan I., Abu-Asab M.S., Campos M., Villasmil R., Wan Q.,
RA   Maminishkis A., McGaughey D., Barone F., Gundry R.L., Riordon D.R.,
RA   Boheler K.R., Sharma R., Bharti K.;
RT   "Cell-autonomous lipid-handling defects in Stargardt iPSC-derived
RT   retinal pigment epithelium cells.";
RL   Stem Cell Reports 17:2438-2450(2022).
//