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Cellosaurus XP39R (CVCL_9S66)

[Text version]
Cell line name XP39R
Accession CVCL_9S66
Resource Identification Initiative To cite this cell line use: XP39R (RRID:CVCL_9S66)
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; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (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_3248 (XP39OS)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
STR profile Source(s): JCRB=JCRB1755

Markers:
AmelogeninX
CSF1PO12
D5S81811,12
D7S82011,12
D13S3179,11
D16S53910,12
TH016,7
TPOX8,11
vWA17,18

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Publications

PubMed=26090552; DOI=10.1089/cell.2014.0104
Hiroe Ohnishi, Takashi Kawasaki, Tomonori Deguchi, Shunsuke Yuba;
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; JCRB1755
Encyclopedic resources Wikidata; Q54994925
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12