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Cellosaurus TMOi001-A-3 (CVCL_B0PI)

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Cell line name TMOi001-A-3
Synonyms 2B10; NIHi002-A-3
Accession CVCL_B0PI
Resource Identification Initiative To cite this cell line use: TMOi001-A-3 (RRID:CVCL_B0PI)
Comments From: National Institutes of Health; Bethesda; USA.
Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations
  • Mutation; HGNC; HGNC:16369; PARK7; Simple_edited; p.Ala111Leufs*7 (c.331delG); Zygosity=Homozygous; Note=By CRISPR/Cas9 (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)
Hierarchy Parent: CVCL_RM92 (CBiPSC6.2)
Sex of cell Female
Age at sampling <1D
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; TMOi001-A-3
Encyclopedic resources Wikidata; Q108821373
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7