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Cellosaurus GM11033 (CVCL_U945)

[Text version]
Cell line name GM11033
Accession CVCL_U945
Resource Identification Initiative To cite this cell line use: GM11033 (RRID:CVCL_U945)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6188; JAG1; Simple; p.Cys312Ter (c.936T>A); ClinVar=VCV001358138; Zygosity=Heterozygous (from autologous cell line GM11091).
Disease Alagille syndrome (NCIt: C35139)
Alagille syndrome (ORDO: Orphanet_52)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U946 ! GM11091
Sex of cell Female
Age at sampling 17Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM11033
Cell line databases/resources CLO; CLO_0023290
Encyclopedic resources Wikidata; Q54844810
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number13