Cellosaurus cell line S110-iPSC (CVCL

Cellosaurus S110-iPSC (CVCL_DD58)

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Cell line name

S110-iPSC

Accession

CVCL_DD58

Resource Identification Initiative

To cite this cell line use: S110-iPSC (RRID:CVCL_DD58)

Comments

Population: Caucasian.
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.Arg42Pro (c.125G>C); ClinVar=VCV000644125; 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_DD49 (ND31618)

Sex of cell

Female

Age at sampling

63Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=27191603

Markers:

Amelogenin	X
CSF1PO	12,13
D5S818	10
D7S820	8,10
D13S317	11,12
D16S539	11
D21S11	29
TH01	7,9
TPOX	8,9
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; Q54951802

Entry history

Entry creation

13-Jul-2016

Last entry update

19-Dec-2024

Version number