Cellosaurus cell line GM11411 (CVCL

Cellosaurus GM11411 (CVCL_GS78)

Cross-references
Cell line name	GM11411
Synonyms	GM 11411
Accession	CVCL_GS78
Resource Identification Initiative	To cite this cell line use: GM11411 (RRID:CVCL_GS78)
Comments	Population: Caucasian; Amish. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Homozygous (PubMed=1346349; PubMed=1680289).
Disease	Adenosine deaminase deficiency (NCIt: C3962) Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4M
Category	Transformed cell line
Publications	PubMed=1680289; PMCID=PMC1683191 Hirschhorn R., Chakravarti V., Puck J.M., Douglas S.D. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am. J. Hum. Genet. 49:878-885(1991) PubMed=1346349; DOI=10.1002/ajmg.1320420213 Hirschhorn R., Ellenbogen A., Tzall S. Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA- patients with severe combined immunodeficiency (ADA- SCID). Am. J. Med. Genet. 42:201-207(1992)
Cell line collections (Providers)	Coriell; GM11411
Cell line databases/resources	CLO; CLO_0020796
Encyclopedic resources	Wikidata; Q54845067
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	13