ID   XP3OSHF
AC   CVCL_RZ97
SY   Xeroderma Pigmentosum 3 OSaka Heterozygote Father
DR   JCRB; JCRB3049
DR   JCRB; KURB1010
DR   Wikidata; Q54994939
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; KURB1010; 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,Y
ST   CSF1PO: 10
ST   D13S317: 9,11
ST   D16S539: 9,10
ST   D5S818: 10
ST   D7S820: 8,12
ST   TH01: 7,9
ST   TPOX: 11,12
ST   vWA: 16,17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
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