ID   SJTUGHi002-A
AC   CVCL_D6NM
DR   BioSamples; SAMEA114765760
DR   hPSCreg; SJTUGHi002-A
RX   PubMed=38340451;
CC   From: Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2148; CNGA1; Simple; p.Leu85Phefs*4 (c.253delC) (p.Leu89Phefs*4, c.265delC); ClinVar=VCV000225315; Zygosity=Homozygous (PubMed=38340451).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38340451; DOI=10.1016/j.scr.2024.103334;
RA   Wu Y.-D., Zhang T., Chen Z.-X., Tang L., Zhang L., Chen J.-Q.,
RA   Wan X.-L., Sun X.-D.;
RT   "Establishment of the induced pluripotent stem cell line SJTUGHi002-A
RT   from a CNGA1-related recessive retinitis pigmentosa patient.";
RL   Stem Cell Res. 76:103334-103334(2024).
//