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Cellosaurus WCHSCUi001-A (CVCL_C1XJ)

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Cell line name WCHSCUi001-A
Synonyms WCHSCU-iPS-PD-CHCHD2-001
Accession CVCL_C1XJ
Resource Identification Initiative To cite this cell line use: WCHSCUi001-A (RRID:CVCL_C1XJ)
Comments From: West China Hospital, Sichuan university; Chengdu; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:21645; CHCHD2; Simple; p.Pro53Alafs*38 (c.156_157insGCAG); Zygosity=Heterozygous (PubMed=35944313).
Disease Parkinson disease 22, autosomal dominant (NCIt: C205643)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=35944313; DOI=10.1016/j.scr.2022.102881
Zheng Jiang, Xiao-Jing Gu, Wei-Ming Su, Qing-Qing Duan, Jun-Yu Lin, Bei Cao, Hui-Fang Shang, Yong-Ping Chen;
Production of a human iPSC line from an early-onset Parkinson's disease patient with a novel CHCHD2 gene truncated mutation.
Stem Cell Res. 64:102881-102881(2022)

Cross-references
Cell line databases/resources hPSCreg; WCHSCUi001-A
Encyclopedic resources Wikidata; Q114313239
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6