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Cellosaurus SJTUGHi001-A (CVCL_D6J9)

[Text version]
Cell line name SJTUGHi001-A
Accession CVCL_D6J9
Resource Identification Initiative To cite this cell line use: SJTUGHi001-A (RRID:CVCL_D6J9)
Comments From: Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18286; RAX2; Simple; p.Pro28Leu (c.77C>T); Zygosity=Heterozygous (PubMed=38507880).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 63Y
Category Induced pluripotent stem cell
Publications

PubMed=38507880; DOI=10.1016/j.scr.2024.103390
Xin-Yue Bai, Jie-Qiong Chen, Xiao-Huan Zhao, Xin-Yue Zhu, Xiao-Yan Ding, Ting Zhang, Mei Jiang, Xiao-Dong Sun;
Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with retinitis pigmentosa carrying c.77C > T mutation in RAX2 gene.
Stem Cell Res. 77:103390-103390(2024)

Cross-references
Cell line databases/resources hPSCreg; SJTUGHi001-A
Biological sample resources BioSamples; SAMEA115376234
Encyclopedic resources Wikidata; Q127384297
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3