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
CH   CVCL_CV31 ! XP40OS iPS
CH   CVCL_3251 ! XP40OSTERT
//
RX   PubMed=3834095; DOI=10.1269/jrr.26.443;
RA   Fujiwara, Yoshisada
RA   Ichihashi, Masamitsu
RA   Uehara, Yoshihiko
RA   Matsumoto, Akira
RA   Yamamoto, Yoko
RA   Kano, Yoshio
RA   Tanakura, Yoshimasa
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=3814505; DOI=10.1111/j.1365-2133.1987.tb05796.x;
RA   Sato, Kenji
RA   Watatani, Masahiro
RA   Ikenaga, Mituo
RA   Kozuka, Takehito
RA   Kitano, Yukio
RA   Yoshikawa, Kunihiko
RA   Mimaki, Takashi
RA   Abe, Jiro
RA   Sugita, Takahiro
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=26697316; DOI=10.1016/j.gdata.2015.07.008; PMCID=PMC4664661;
RA   Okamura, Kohji
RA   Toyoda, Masashi
RA   Hata, Kenichiro
RA   Nakabayashi, Kazuhiko
RA   Umezawa, Akihiro
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).
//
RX   PubMed=6481688; DOI=10.1269/jrr.25.150;
RA   Watatani, Masahiro
RA   Ohtani, Hideaki
RA   Takai, Shin-ichiro
RA   Ikenaga, Mituo
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).
//