Cellosaurus cell line P1-iPSC (CVCL

Cellosaurus P1-iPSC (CVCL_DD57)

[Text version]

Cell line name

P1-iPSC

Synonyms

P01-iPSC

Accession

CVCL_DD57

Resource Identification Initiative

To cite this cell line use: P1-iPSC (RRID:CVCL_DD57)

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).
Mutation; HGNC; 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

Parent: CVCL_DD47 (ND30171)

Sex of cell

Male

Age at sampling

54Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=27191603

Markers:

Amelogenin	X,Y
CSF1PO	10,11
D5S818	11,13
D7S820	9,11
D13S317	11,12
D16S539	10,11
D21S11	28,32.2
TH01	8,9.3
TPOX	8
vWA	16,17

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-E0154890(2016)

Cross-references

Encyclopedic resources

Wikidata; Q54937209

Entry history

Entry creation

13-Jul-2016

Last entry update

19-Dec-2024

Version number