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Cellosaurus CIBi013-A (CVCL_C6TL)

[Text version]
Cell line name CIBi013-A
Synonyms DJ-1_c.334C>G
Accession CVCL_C6TL
Resource Identification Initiative To cite this cell line use: CIBi013-A (RRID:CVCL_C6TL)
Comments From: Cell Inspire Biotechnology; Shenzhen; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 16369; PARK7; Simple; p.Leu122Val (c.334C>G); Zygosity=Homozygous (PubMed=36469984).
Disease Parkinson disease 7, autosomal recessive early-onset (NCIt: C198606)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell

PubMed=36469984; DOI=10.1016/j.scr.2022.102983
Li L.-F., Si X.-L., Lei M., Yang J.-Y., Ruan J., Liu H.-F., Huang F.-F., Jin X.-X., Xie K.-Y., Yang H., Lei X.-G., Liu Y.
Generation of a human iPSC line (CIBi013-A) from a patient with young-onset Parkinson's disease carrying a novel homozygous PARK7 (DJ-1) mutation.
Stem Cell Res. 66:102983-102983(2023)

Cell line databases/resources hPSCreg; CIBi013-A
Encyclopedic resources Wikidata; Q117704252
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2