ID   LVPEIi007-B
AC   CVCL_D6MY
SY   LVIP04-SD1-1
DR   BioSamples; SAMEA115170415
DR   hPSCreg; LVPEIi007-B
DR   Wikidata; Q127382715
RX   PubMed=38615588;
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=38615588).
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_D6MV ! LVPEIi007-A
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38615588; DOI=10.1016/j.scr.2024.103418;
RA   Pidishetty D., Maddileti S., Mahato S., Agrawal T., Pulimamidi V.K.,
RA   Naik M.N., Kannabiran C., Jalali S., Mariappan I.;
RT   "Generation of two induced pluripotent stem cell lines (LVPEIi007-B,
RT   LVPEIi008-B) from patients harboring homozygous mutation in ABCA4
RT   (c.6088C>T) using non-integrative Sendai virus-based approach.";
RL   Stem Cell Res. 77:103418-103418(2024).
//