ID   LNDWCHi001-A
AC   CVCL_D0HN
SY   LNDWCH-iPS-PD-PLA2G6-001
DR   BioSamples; SAMEA114009739
DR   hPSCreg; LNDWCHi001-A
DR   Wikidata; Q123032972
RX   PubMed=38215561;
CC   From: Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan university; Chengdu; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Ala633Val (c.1898C>T); ClinVar=VCV001180788; Zygosity=Homozygous (PubMed=38215561).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson's disease
DI   NCIt; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38215561; DOI=10.1016/j.scr.2024.103305;
RA   Huang J.-X., Jiang Q.-R., Pang D.-J., Yu Y.-J., Cui Y.-Y., Li C.-Y.,
RA   Shang H.-F.;
RT   "Generation of induced pluripotent stem cell line LNDWCHi001-A from a
RT   patient with early-onset Parkinson's disease carrying the homozygous
RT   c.1898C > T (p.A633V) mutation in the PLA2G6 gene.";
RL   Stem Cell Res. 75:103305-103305(2024).
//