Cellosaurus cell line GM11578 (CVCL

Cellosaurus GM11578 (CVCL_AJ67)

Cross-references
Cell line name	GM11578
Synonyms	GM11578C
Accession	CVCL_AJ67
Resource Identification Initiative	To cite this cell line use: GM11578 (RRID:CVCL_AJ67)
Comments	Part of: R-W pedigree MODY cell line collection. Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (PubMed=8945471).
Disease	Hepatocyte nuclear factor 4-alpha associated monogenic diabetes (NCIt: C129744) MODY (ORDO: Orphanet_552)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	27Y
Category	Transformed cell line
Publications	CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8945471; DOI=10.1038/384458a0 Yamagata K., Furuta H., Oda N., Kaisaki P.J., Menzel S., Cox N.J., Fajans S.S., Signorini S., Stoffel M., Bell G.I. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460(1996)
Cell line collections (Providers)	Coriell; GM11578
Cell line databases/resources	CLO; CLO_0021223
Encyclopedic resources	Wikidata; Q54845164
Entry history
Entry creation	02-May-2016
Last entry update	19-Dec-2024
Version number	14