ID   XP70TO
AC   CVCL_F513
SY   Xeroderma Pigmentosum 70 TOkyo
DR   JCRB; JCRB3013
DR   JCRB; JCRB3014
DR   JCRB; KURB1082
DR   JCRB; KURB1083
DR   Wikidata; Q54994962
RX   PubMed=1376435;
RX   PubMed=10771487;
RX   PubMed=22466610;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Homozygous (PubMed=22466610).
CC   Discontinued: JCRB; KURB1082; probable.
CC   Discontinued: JCRB; KURB1083; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3013; JCRB=JCRB3014
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,12
ST   D16S539: 9,11
ST   D18S51: 12,14
ST   D21S11: 29
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 8,10
ST   D8S1179: 12,13
ST   FGA: 19,23
ST   Penta D: 9,10
ST   Penta E: 18,21
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C173107; UV-sensitive syndrome 3
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 10-04-25; Version: 16
//
RX   PubMed=1376435; DOI=10.1016/0921-8777(92)90049-9;
RA   Keeney S.N., Wein H., Linn S.M.;
RT   "Biochemical heterogeneity in xeroderma pigmentosum complementation
RT   group E.";
RL   Mutat. Res. 273:49-56(1992).
//
RX   PubMed=10771487; DOI=10.1046/j.1523-1747.2000.00952.x;
RA   Itoh T., Linn S.M., Ono T., Yamaizumi M.;
RT   "Reinvestigation of the classification of five cell strains of
RT   xeroderma pigmentosum group E with reclassification of three of
RT   them.";
RL   J. Invest. Dermatol. 114:1022-1029(2000).
//
RX   PubMed=22466610; DOI=10.1038/ng.2229;
RA   Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M.,
RA   Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M.,
RA   Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H.,
RA   Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R.,
RA   Yoshiura K.-i., Ogi T.;
RT   "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA
RT   polymerase IIo processing in transcription-coupled nucleotide-excision
RT   repair.";
RL   Nat. Genet. 44:586-592(2012).
//