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Cellosaurus CGMHi002-A (CVCL_WP73)

[Text version]
Cell line name CGMHi002-A
Synonyms CGMH-iPSCs-PARK14-1
Accession CVCL_WP73
Resource Identification Initiative To cite this cell line use: CGMHi002-A (RRID:CVCL_WP73)
Comments From: Chang Gung Memorial Hospital, Lin-Kou Medical Centre, Chang Gung University; Tao-Yuan; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Heterozygous (PubMed=31493761).
  • Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Met358Ilefs*7 (c.1077G>A) (p.Ser359Ser); ClinVar=VCV000279875; Zygosity=Heterozygous; Note=Cryptic splice site mutation (PubMed=31493761).
Disease 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 35Y
Category Induced pluripotent stem cell
Publications

PubMed=31493761; DOI=10.1016/j.scr.2019.101552
Ching-Chi Chiu, Hung-Li Wang, Yi-Hsin Weng, Rou-Shayn Chen, Chiung-Mei Chen, Tu-Hsueh Yeh, Chin-Song Lu, Yu-Jie Chen, Yu-Chuan Liu, Ying-Zu Huang, Kuo-Hsuan Chang;
Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.
Stem Cell Res. 40:101552-101552(2019)

Cross-references
Cell line databases/resources hPSCreg; CGMHi002-A
SKIP; SKIP005563
Encyclopedic resources Wikidata; Q93448049
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number11