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Cellosaurus FJMUUHi001-A (CVCL_A1WA)

[Text version]
Cell line name FJMUUHi001-A
Accession CVCL_A1WA
Resource Identification Initiative To cite this cell line use: FJMUUHi001-A (RRID:CVCL_A1WA)
Comments From: Fujian Medical University Union Hospital; Fuzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 16369; PARK7; Simple; p.Glu64Argfs*5 (c.189dupA); ClinVar=VCV000623671; Zygosity=Homozygous (PubMed=33485186).
Disease Parkinson disease 7, autosomal recessive early-onset (NCIt: C198606)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=33485186; DOI=10.1016/j.scr.2021.102175
Chen Z.-T., Zhao Z.-H., Chen L.-N., Fan F., Cai G.-E., Weng H.-D., Wang Y.-Q., Liao L.-M., Chen X.-C., Huang E., Ye Q.-Y.
Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.
Stem Cell Res. 51:102175-102175(2021)

Cross-references
Cell line databases/resources hPSCreg; FJMUUHi001-A
Biological sample resources BioSamples; SAMEA7211865
Encyclopedic resources Wikidata; Q105506873
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5