Cellosaurus cell line GM11412 (CVCL

Cross-references
Cell line name	GM11412
Synonyms	GM 11412
Accession	CVCL_DB79
Resource Identification Initiative	To cite this cell line use: GM11412 (RRID:CVCL_DB79)
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=Heterozygous (PubMed=1680289).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Adult
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)
Cell line collections (Providers)	Coriell; GM11412
Cell line databases/resources	CLO; CLO_0020795
Encyclopedic resources	Wikidata; Q54845068
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	14