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Cellosaurus CIBi007-A (CVCL_YT00)

[Text version]
Cell line name CIBi007-A
Synonyms PARK2/HTRA2 iPSC; YOPD iPSC-C28; iPSD0036
Accession CVCL_YT00
Resource Identification Initiative To cite this cell line use: CIBi007-A (RRID:CVCL_YT00)
Comments From: Cell Inspire Biotechnology; Shenzhen; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:14348; HTRA2; Simple; p.Pro143Ala (c.427C>G); ClinVar=VCV000030583; Zygosity=Heterozygous (PubMed=32688332).
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Cys154Phe (c.461G>T); Zygosity=Heterozygous (PubMed=32688332).
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Cys337Tyr (c.1010G>A); Zygosity=Heterozygous (PubMed=32688332).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=32688332; DOI=10.1016/j.scr.2020.101905
Yu-Bo Yan, Sui-Han Wu, Li-Xiang Jiang, Bo Yang, Xu-Hui Chen, Yu-Qing Liu, Bao-Rong Yu, Jian Fu, Jin Yu, Hui Ning, Meng Chu, Jia-Yin Yang;
Generation of a human iPSC line CIBi007-A from a patient with young-onset Parkinson's disease carrying variants in PRKN and HTRA2.
Stem Cell Res. 47:101905-101905(2020)

Cross-references
Cell line databases/resources hPSCreg; CIBi007-A
SKIP; SKIP005866
Biological sample resources BioSamples; SAMEA6649654
Encyclopedic resources Wikidata; Q93453494
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8