ID   LVPEIi004-A
AC   CVCL_D0HQ
SY   LVIP02-LC2-1
DR   BioSamples; SAMEA114539332
DR   hPSCreg; LVPEIi004-A
DR   Wikidata; Q123032986
RX   PubMed=38631180;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:10294; RPE65; Simple; p.Lys216Ter (c.646A>T); ClinVar=VCV002949504; Zygosity=Homozygous (PubMed=38631180).
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; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38631180; DOI=10.1016/j.scr.2024.103413;
RA   Maddileti S., Mahato S., Agrawal T., Dave V.P., Naik M.N.,
RA   Ali M.J., Kannabiran C., Jalali S., Jayandharan G.R., Mariappan I.;
RT   "Generation of two induced pluripotent stem cell lines (LVPEIi004-A
RT   and LVPEIi005-A) from probands with Leber congenital amaurosis 2
RT   (LCA2) and harboring mutations in RPE65.";
RL   Stem Cell Res. 77:103413-103413(2024).
//