Cellosaurus cell line LCL ASNS H205P+Y398Lfs*4 (CVCL

Entry history
Cell line name	LCL ASNS H205P+Y398Lfs*4
Accession	CVCL_E8E4
Resource Identification Initiative	To cite this cell line use: LCL ASNS H205P+Y398Lfs*4 (RRID:CVCL_E8E4)
Comments	Population: Caucasian; Italian and Cuban. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:753; ASNS; Simple; p.His205Pro (c.614A>C); ClinVar=VCV001486990; Zygosity=Heterozygous (PubMed=36873094). Mutation; HGNC; HGNC:753; ASNS; Simple; p.Tyr398Leufs*4 (c.1192dupT); ClinVar=VCV000377228; Zygosity=Heterozygous (PubMed=36873094).
Disease	Asparagine synthetase deficiency (NCIt: C168586) Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome (ORDO: Orphanet_391376)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4-6Y
Category	Transformed cell line
Publications	PubMed=36873094; DOI=10.1002/jmd2.12356; PMCID=PMC9981421 Staklinski S.J., Chang M.C., Ahrens-Nicklas R.C., Kaur S., Stefanatos A.K., Dudenhausen E.E., Merritt M.E., Kilberg M.S. Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines. JIMD Rep. 64:167-179(2023)
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1