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Cellosaurus ND30171 (CVCL_DD47)

[Text version]
Cell line name ND30171
Accession CVCL_DD47
Resource Identification Initiative To cite this cell line use: ND30171 (RRID:CVCL_DD47)
Comments Population: Caucasian.
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.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (PubMed=25843045).
  • Mutation; HGNC; 8607; PRKN; Unexplicit; Ex3del; 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 Children:
CVCL_YQ23 (NH50232)CVCL_YQ24 (NH50233)CVCL_YQ25 (NH50234)
CVCL_DD57 (P1-iPSC)
Originate from same individual CVCL_CH67 ! ND06284
Sex of cell Male
Age at sampling 54Y
Category Finite cell line
STR profile Source(s): PubMed=27191603

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81811,13
D7S8209,11
D13S31711,12
D16S53910,11
D21S1128,32.2
TH018,9.3
TPOX8
vWA16,17

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
Cell line collections (Providers) Coriell; ND30171 - Discontinued
NHCDR; ND30171
Biological sample resources BioSample; SAMN00805545
Encyclopedic resources Wikidata; Q54929329
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number14