ID   XP19BE
AC   CVCL_H143
SY   Xeroderma Pigmentosum 19 BEthesda; XP1WI; GM01630; GM-1630; GM 1630; GM1630
DR   CLO; CLO_0031500
DR   BioSample; SAMN00806993
DR   Coriell; GM01630
DR   JCRB; KURB1027
DR   Wikidata; Q54836965
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1372102;
RX   PubMed=1702221;
RX   PubMed=2065254;
RX   PubMed=6947227;
RX   PubMed=9671271;
RX   PubMed=15572672;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Homozygous; Note=Also produces mis-splicing (PubMed=9671271; Coriell=GM01630).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H144 ! XP19BE LCL
SX   Male
AG   3Y6M
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 22
//
RX   PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987;
RA   Thorel, Fabrizio
RA   Constantinou, Angelos
RA   Dunand-Sauthier, Isabelle
RA   Nouspikel, Thierry
RA   Lalle, Philippe
RA   Raams, Anja
RA   Jaspers, Nicolaas G.J.
RA   Vermeulen, Wim
RA   Shivji, Mahmud K.K.
RA   Wood, Richard Dean
RA   Clarkson, Stuart Gordon
RT   "Definition of a short region of XPG necessary for TFIIH interaction
RT   and stable recruitment to sites of UV damage.";
RL   Mol. Cell. Biol. 24:10670-10680(2004).
//
RX   PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6;
RA   States, J. Christopher
RA   McDuffie, E.R.
RA   Myrand, Scott P.
RA   McDowell, Mindy L.
RA   Cleaver, James Edward
RT   "Distribution of mutations in the human xeroderma pigmentosum group A
RT   gene and their relationships to the functional regions of the DNA
RT   damage recognition protein.";
RL   Hum. Mutat. 12:103-113(1998).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013;
RA   Miskin, Ruth
RA   Ben-Ishai, Ruth
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Narita, Masashi
RA   Mimaki, Takashi
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
RT   "Three nonsense mutations responsible for group A xeroderma
RT   pigmentosum.";
RL   Mutat. Res. 273:193-202(1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Miyamoto, Iwai
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=2065254; DOI=10.1093/brain/114.3.1335;
RA   Robbins, Jay H.
RA   Brumback, Roger Alan
RA   Mendiones, Marlene
RA   Barrett, Susanna F.
RA   Carl, James R.
RA   Cho, Sechin
RA   Denckla, Martha Bridge
RA   Ganges, Mary Bruce
RA   Gerber, Lynn H.
RA   Guthrie, Richard A.
RA   Meer, Jacob
RA   Moshell, Alan N.
RA   Polinsky, Ronald J.
RA   Ravin, Paula D.
RA   Sonies, Barbara C.
RA   Tarone, Robert E.
RT   "Neurological disease in xeroderma pigmentosum. Documentation of a
RT   late onset type of the juvenile onset form.";
RL   Brain 114:1335-1361(1991).
//