ID   LVPEIi006-A
AC   CVCL_D6M4
SY   LVIP02-LC12-1
DR   BioSamples; SAMEA115157827
DR   hPSCreg; LVPEIi006-A
DR   Wikidata; Q127382712
RX   PubMed=38479331;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 19689; RD3; Simple; p.Arg99Argfs*1 (c.296+1G>A); ClinVar=VCV000013121; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=38479331).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=38479331
ST   Amelogenin: X,Y
ST   CSF1PO: 10,13
ST   D13S317: 9,10
ST   D16S539: 8,12
ST   D5S818: 10,11
ST   D7S820: 9,10
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 13,16
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6MZ ! LVPEIi006-B
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38479331; DOI=10.1016/j.scr.2024.103380;
RA   Mahato S., Maddileti S., Naik M.N., Kannabiran C., Jalali S.,
RA   Mariappan I.;
RT   "Generation of Leber congenital amaurosis, type 12 patient-specific
RT   induced pluripotent stem cell line (LVPEIi006-A), harboring a
RT   homozygous mutation in RD3.";
RL   Stem Cell Res. 77:103380-103380(2024).
//