ID   XP40OS
AC   CVCL_3250
SY   Xeroderma Pigmentosum 40 OSaka
DR   BioSample; SAMN03793112
DR   GEO; GSM1338613
DR   JCRB; JCRB0327
DR   JCRB; KURB1168
DR   JCRB; KURB1169
DR   Wikidata; Q54994945
RX   PubMed=3814505;
RX   PubMed=3834095;
RX   PubMed=6481688;
RX   PubMed=26697316;
CC   Population: Japanese.
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0327
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,9
ST   D16S539: 10,12
ST   D5S818: 10,13,14
ST   D7S820: 10,12
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 10-04-25; Version: 17
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RX   PubMed=3814505; DOI=10.1111/j.1365-2133.1987.tb05796.x;
RA   Sato K., Watatani M., Ikenaga M., Kozuka T., Kitano Y., Yoshikawa K.,
RA   Mimaki T., Abe J., Sugita T.;
RT   "Sensitivity to UV radiation of fibroblasts from a Japanese group A
RT   xeroderma pigmentosum patient with mild neurological abnormalities.";
RL   Br. J. Dermatol. 116:101-108(1987).
//
RX   PubMed=3834095; DOI=10.1269/jrr.26.443;
RA   Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y.,
RA   Kano Y., Tanakura Y.;
RT   "Xeroderma pigmentosum groups C and F: additional assignments and a
RT   review of the subjects in Japan.";
RL   J. Radiat. Res. 26:443-449(1985).
//
RX   PubMed=6481688; DOI=10.1269/jrr.25.150;
RA   Watatani M., Ohtani H., Takai S.-i., Ikenaga M.;
RT   "Host cell reactivation of ultraviolet light irradiated adenovirus 5
RT   in fibroblasts from patients with Cockayne syndrome: a study with six
RT   Japanese cases.";
RL   J. Radiat. Res. 25:150-159(1984).
//
RX   PubMed=26697316; DOI=10.1016/j.gdata.2015.07.008; PMCID=PMC4664661;
RA   Okamura K., Toyoda M., Hata K., Nakabayashi K., Umezawa A.;
RT   "Whole-exome sequencing of fibroblast and its iPS cell lines derived
RT   from a patient diagnosed with xeroderma pigmentosum.";
RL   Genom. Data 6:4-6(2015).
//