ID   XP22OS
AC   CVCL_ZM95
SY   Xeroderma Pigmentosum 22 OSaka
DR   JCRB; KURB1333
DR   Wikidata; Q98135554
RX   PubMed=7947212;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=7947212).
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)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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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).
//