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Cellosaurus SJTUGHi002-A (CVCL_D6NM)

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Cell line name SJTUGHi002-A
Accession CVCL_D6NM
Resource Identification Initiative To cite this cell line use: SJTUGHi002-A (RRID:CVCL_D6NM)
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:2148; CNGA1; Simple; p.Leu85Phefs*4 (c.253delC) (p.Leu89Phefs*4, c.265delC); ClinVar=VCV000225315; Zygosity=Homozygous (PubMed=38340451).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=38340451; DOI=10.1016/j.scr.2024.103334
Yi-Dong Wu, Ting Zhang, Zhi-Xuan Chen, Lu Tang, Lei Zhang, Jie-Qiong Chen, Xiao-Ling Wan, Xiao-Dong Sun;
Establishment of the induced pluripotent stem cell line SJTUGHi002-A from a CNGA1-related recessive retinitis pigmentosa patient.
Stem Cell Res. 76:103334-103334(2024)

Cross-references
Cell line databases/resources hPSCreg; SJTUGHi002-A
Biological sample resources BioSamples; SAMEA114765760
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2