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Cellosaurus ULUNDi006-A (CVCL_RV28)

[Text version]
Cell line name ULUNDi006-A
Synonyms CSC-44I; CSC-44
Accession CVCL_RV28
Resource Identification Initiative To cite this cell line use: ULUNDi006-A (RRID:CVCL_RV28)
Comments From: University of Lund; Lund; Sweden.
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.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=29353703).
  • Mutation; HGNC; 8607; PRKN; Unexplicit; Ex6del; Zygosity=Heterozygous (PubMed=29353703).
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)
Sex of cell Female
Age at sampling 78Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29353703

Markers:
AmelogeninX
CSF1PO11,12
D5S81811,12
D7S82010
D13S31711
D16S5399,12
D21S1130,31
TH019.3
TPOX8,11
vWA18,19

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Publications

PubMed=29353703; DOI=10.1016/j.scr.2018.01.006
Marote A., Pomeshchik Y., Goldwurm S., Collin A., Lamas N.J., Pinto L., Salgado A.J., Roybon L.
Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
Stem Cell Res. 27:90-94(2018)

Cross-references
Cell line databases/resources hPSCreg; ULUNDi006-A
SKIP; SKIP002948
Encyclopedic resources Wikidata; Q54990748
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number11