ID   XP18OS
AC   CVCL_JH24
SY   Xeroderma Pigmentosum 18 OSaka
DR   JCRB; JCRB3027
DR   JCRB; KURB1234
DR   JCRB; KURB1330
DR   Wikidata; Q54994894
RX   PubMed=832273;
RX   PubMed=7947212;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Tyr116Ter (c.348T>A); ClinVar=VCV000000997; Zygosity=Homozygous (PubMed=7947212).
CC   Discontinued: JCRB; KURB1234; probable.
CC   Discontinued: JCRB; KURB1330; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3027
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 8,9
ST   D16S539: 9,13
ST   D5S818: 12,13
ST   D7S820: 11
ST   TH01: 9
ST   TPOX: 8,9
ST   vWA: 14,18
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6M
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 11
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RX   PubMed=832273;
RA   Takebe H., Miki Y., Kozuka T., Furuyama J.-i., Tanaka K., Sasaki M.S.,
RA   Fujiwara Y., Akiba H.;
RT   "DNA repair characteristics and skin cancers of xeroderma pigmentosum
RT   patients in Japan.";
RL   Cancer Res. 37:490-495(1977).
//
RX   PubMed=7947212; DOI=10.1111/j.1365-2133.1994.tb08562.x;
RA   Maeda T., Sato K., Minami H., Taguchi H., Yoshikawa K.;
RT   "Severe neurological abnormalities associated with a mutation in the
RT   zinc-finger domain in a group A xeroderma pigmentosum patient.";
RL   Br. J. Dermatol. 131:566-570(1994).
//