Cellosaurus cell line B119-iPSC (CVCL

Cellosaurus B119-iPSC (CVCL_DE33)

[Text][XML][JSON]

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; 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:

Amelogenin	X
CSF1PO	10
D5S818	11
D7S820	10,11
D13S317	11,12
D16S539	12,13
D21S11	29,30
TH01	8,9.3
TPOX	8,12
vWA	16

Publications

PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019; PMCID=PMC4437475
Atossa Shaltouki, Renuka Sivapatham, Ying Pei, Akos A. Gerencser, Olga Momcilovic, Mahendra Surendra Rao, Xian-Min Zeng;
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
Olga Momcilovic, Renuka Sivapatham, Tal Ronnen Oron, Morten Meyer, Sean Mooney, Mahendra Surendra Rao, Xian-Min Zeng;
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; Q54752308

Entry history

Entry creation

13-Jul-2016

Last entry update

19-Dec-2024

Version number