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Cellosaurus I3-iPSC (CVCL_DD60)

[Text version]
Cell line name I3-iPSC
Synonyms I03-iPSC
Accession CVCL_DD60
Resource Identification Initiative To cite this cell line use: I3-iPSC (RRID:CVCL_DD60)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Asn52Metfs*29 (c.155delA) (255delA); ClinVar=VCV000536457; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3-4del; Zygosity=Heterozygous (from parent cell line).
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_Y811 (ND29543)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=27191603

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81811,12
D7S8208,10
D13S3179,12
D16S53911,12
D21S1129
TH016,9.3
TPOX8,10
vWA14,17

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Publications

PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019; PMCID=PMC4437475
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; PMCID=PMC4871453
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:e0154890.1-e0154890.26(2016)

Cross-references
Encyclopedic resources Wikidata; Q54897085
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13