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Cellosaurus XP3R (CVCL_9S65)

[Text version]
Cell line name XP3R
Accession CVCL_9S65
Resource Identification Initiative To cite this cell line use: XP3R (RRID:CVCL_9S65)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (from parent cell line).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_3245 (XP3OS)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
STR profile Source(s): JCRB=JCRB1741

Markers:
AmelogeninX
CSF1PO10,11
D5S81810,11
D7S82011,12
D13S3179,11
D16S5399,12
TH017
TPOX8,11
vWA14,16

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Publications

PubMed=26090552; DOI=10.1089/cell.2014.0104
Ohnishi H., Kawasaki T., Deguchi T., Yuba S.
Generation of xeroderma pigmentosum-A patient-derived induced pluripotent stem cell line for use as future disease model.
Cell. Reprogram. 17:268-274(2015)

Cross-references
Cell line collections (Providers) JCRB; JCRB1741
Encyclopedic resources Wikidata; Q54994942
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13