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Cellosaurus B119-iPSC (CVCL_DE33)

[Text version]
Cell line name B119-iPSC
Accession CVCL_DE33
Resource Identification Initiative To cite this cell line use: B119-iPSC (RRID:CVCL_DE33)
Comments Population: Latino or Hispanic; Dominican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=25843045).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DD48 (ND29369)
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=27191603

Markers:
AmelogeninX
CSF1PO10
D5S81811
D7S82010,11
D13S31711,12
D16S53912,13
D21S1129,30
TH018,9.3
TPOX8,12
vWA16

Run an STR similarity search on this cell line
Publications

PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019
Shaltouki A., Sivapatham R., Pei Y., Gerencser A.A., Momcilovic O., Rao M.S., Zeng X.-M.
Mitochondrial alterations by PARKIN in dopaminergic neurons using PARK2 patient-specific and PARK2 knockout isogenic iPSC lines.
Stem Cell Reports 4:847-859(2015)

PubMed=27191603; DOI=10.1371/journal.pone.0154890
Momcilovic O., Sivapatham R., Oron T.R., Meyer M., Mooney S., Rao M.S., Zeng X.-M.
Derivation, characterization, and neural differentiation of integration-free induced pluripotent stem cell lines from Parkinson's disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations.
PLoS ONE 11:E0154890-E0154890(2016)

Cross-references
Encyclopedic resources Wikidata; Q54752308
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number13