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Cellosaurus NIHTVBi015-A (CVCL_ZE09)

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Cell line name NIHTVBi015-A
Synonyms HT188
Accession CVCL_ZE09
Resource Identification Initiative To cite this cell line use: NIHTVBi015-A (RRID:CVCL_ZE09)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:16369; PARK7; Simple; p.Ala111Leufs*7 (c.331delG); Zygosity=Homozygous (PubMed=34419745).
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 Female
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=34419745; DOI=10.1016/j.scr.2021.102506; PMCID=PMC8451958
Melissa Conti Mazza, Aleksandra Beilina, Dorien A. Roosen, David Hauser, Mark R. Cookson;
Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation.
Stem Cell Res. 55:102506-102506(2021)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi015-A
Biological sample resources BioSample; SAMN14510998
Encyclopedic resources Wikidata; Q98127895
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8