ID   WR216
AC   CVCL_5606
DR   CLO; CLO_0050975
DR   BioSample; SAMN03472279
DR   RCB; RCB0520
DR   Wikidata; Q54994412
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:626; APRT; Simple; p.Lys88Profs*23 (c.258_261dupCCGA); ClinVar=VCV000018299; Zygosity=Homozygous; Note=APRT*Q0 allele (RCB=RCB0520).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): RCB=RCB0520
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 12,14
ST   D16S539: 9,12
ST   D5S818: 10,13
ST   D7S820: 8,12
ST   TH01: 6,9
ST   TPOX: 8,9
ST   vWA: 14
DI   NCIt; C121564; Adenine phosphoribosyltransferase deficiency
DI   ORDO; Orphanet_976; Adenine phosphoribosyltransferase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 16
//