ID   SJTUGHi001-A
AC   CVCL_D6J9
DR   BioSamples; SAMEA115376234
DR   hPSCreg; SJTUGHi001-A
DR   Wikidata; Q127384297
RX   PubMed=38507880;
CC   From: Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18286; RAX2; Simple; p.Pro28Leu (c.77C>T); Zygosity=Heterozygous (PubMed=38507880).
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   Female
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=38507880; DOI=10.1016/j.scr.2024.103390;
RA   Bai X.-Y., Chen J.-Q., Zhao X.-H., Zhu X.-Y., Ding X.-Y., Zhang T.,
RA   Jiang M., Sun X.-D.;
RT   "Generation of an induced pluripotent stem cell line (SJTUGHi001-A)
RT   from a patient with retinitis pigmentosa carrying c.77C > T mutation
RT   in RAX2 gene.";
RL   Stem Cell Res. 77:103390-103390(2024).
//