ID   LCL ASNS Y398Lfs*4
AC   CVCL_E8E5
RX   PubMed=36873094;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:753; ASNS; Simple; p.Tyr398Leufs*4 (c.1192dupT); ClinVar=VCV000377228; Zygosity=Heterozygous (PubMed=36873094).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=36873094; DOI=10.1002/jmd2.12356; PMCID=PMC9981421;
RA   Staklinski S.J., Chang M.C., Ahrens-Nicklas R.C., Kaur S., Stefanatos A.K.,
RA   Dudenhausen E.E., Merritt M.E., Kilberg M.S.;
RT   "Characterizing asparagine synthetase deficiency variants in
RT   lymphoblastoid cell lines.";
RL   JIMD Rep. 64:167-179(2023).
//