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Cellosaurus ND29369 (CVCL_DD48)

[Text version]

Cell line name ND29369
Accession CVCL_DD48
Resource Identification Initiative To cite this cell line use: ND29369 (RRID:CVCL_DD48)
Comments Population: Latino or Hispanic; Dominican.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=22952635).
Disease Parkinson's disease (NCIt: C26845)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DE33 (B119-iPSC )CVCL_A8LZ (LCSBi004-A )CVCL_A8MA (LCSBi004-B )
CVCL_SA37 (ND50095 )
Originate from same individual CVCL_CL48 ! ND10504
Sex of cell Female
Age at sampling 61Y
Category Finite cell line
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=22952635; DOI=10.1371/journal.pone.0043099
Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J., Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R., Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M., Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M., Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J., Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A., Maragakis N.J., Van Gerpen J., Gerstenhaber M., Gwinn K., Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E., Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:E43099-E43099(2012)

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.
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.
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)

PubMed=35378365; DOI=10.1016/j.scr.2022.102765
Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C., Skupin A.
Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004).
Stem Cell Res. 61:102765-102765(2022)

Cross-references
Cell line collections Coriell; ND29369 - Discontinued
NHCDR; ND29369
Biological sample resources BioSample; SAMN00805445
Encyclopedic resources Wikidata; Q54929216
Entry history
Entry creation13-Jul-2016
Last entry update23-Jun-2022
Version number15