Cellosaurus cell line LNDWCHi001-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; LNDWCHi001-A
Biological sample resources	BioSamples; SAMEA114009739
Encyclopedic resources	Wikidata; Q123032972
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4