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Cellosaurus SHEHDNi002-A (CVCL_A3BX)

[Text version]
Cell line name SHEHDNi002-A
Synonyms KY03AP
Accession CVCL_A3BX
Resource Identification Initiative To cite this cell line use: SHEHDNi002-A (RRID:CVCL_A3BX)
Comments From: Department of Neurology, Shanghai East Hospital; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 15469; DNAJC6; Simple; p.Asn526Ser (c.1577A>G); ClinVar=VCV000706821; Zygosity=Heterozygous (PubMed=38219303).
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2385Arg (c.7153G>A); ClinVar=VCV000001943; Zygosity=Heterozygous (PubMed=38219303).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=38219303; DOI=10.1016/j.scr.2023.103297
Liu H., Zhao Z.-B., Zhao J., Xu L.-R., Li J.-S., Zhang B.
Derivation of induced pluripotent stem cell SHEHDNi002-A from a 68-year-old Chinese Han Parkinson's disease patient carrying LRRK2 and DNAJC6 mutations.
Stem Cell Res. 75:103297-103297(2024)

Cross-references
Cell line databases/resources hPSCreg; SHEHDNi002-A
Biological sample resources BioSamples; SAMEA7895017
Encyclopedic resources Wikidata; Q105511072
Entry history
Entry creation12-Jan-2021
Last entry update02-May-2024
Version number6