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Cellosaurus LNDWCHi001-A (CVCL_D0HN)

[Text version]
Cell line name LNDWCHi001-A
Synonyms LNDWCH-iPS-PD-PLA2G6-001
Accession CVCL_D0HN
Resource Identification Initiative To cite this cell line use: LNDWCHi001-A (RRID:CVCL_D0HN)
Comments From: Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan university; Chengdu; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Ala633Val (c.1898C>T); ClinVar=VCV001180788; Zygosity=Homozygous (PubMed=38215561).
Disease Parkinson's disease (NCIt: C26845)
Parkinson disease 14, autosomal recessive (NCIt: C201519)
Adult-onset dystonia-parkinsonism (ORDO: Orphanet_199351)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=38215561; DOI=10.1016/j.scr.2024.103305
Huang J.-X., Jiang Q.-R., Pang D.-J., Yu Y.-J., Cui Y.-Y., Li C.-Y., Shang H.-F.
Generation of induced pluripotent stem cell line LNDWCHi001-A from a patient with early-onset Parkinson's disease carrying the homozygous c.1898C > T (p.A633V) mutation in the PLA2G6 gene.
Stem Cell Res. 75:103305-103305(2024)

Cross-references
Cell line databases/resources hPSCreg; LNDWCHi001-A
Biological sample resources BioSamples; SAMEA114009739
Encyclopedic resources Wikidata; Q123032972
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3