ID   XP3OSHM
AC   CVCL_RZ98
SY   Xeroderma Pigmentosum 3 OSaka Heterozygote Mother
DR   JCRB; JCRB3050
DR   JCRB; KURB1011
DR   Wikidata; Q54994941
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (from familial inference of XP3OS).
CC   Discontinued: JCRB; KURB1011; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 9
ST   D16S539: 9,12
ST   D5S818: 10,11
ST   D7S820: 11,12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 14,17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//