Cellosaurus cell line ULUNDi006-A (CVCL

Cellosaurus ULUNDi006-A (CVCL_RV28)

[Text][XML][JSON]

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; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=29353703).
Mutation; HGNC; 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:

Amelogenin	X
CSF1PO	11,12
D5S818	11,12
D7S820	10
D13S317	11
D16S539	9,12
D21S11	30,31
TH01	9.3
TPOX	8,11
vWA	18,19

Publications

PubMed=29353703; DOI=10.1016/j.scr.2018.01.006
Ana Marote, Yuriy Pomeshchik, Stefano Goldwurm, Anna Collin, Nuno J. Lamas, Luisa Pinto, Antonio Jose Salgado, Laurent Roybon;
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 creation

05-Mar-2018

Last entry update

19-Dec-2024

Version number