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Cellosaurus GM10440 (CVCL_EG73)

[Text version]
Cell line name GM10440
Accession CVCL_EG73
Resource Identification Initiative To cite this cell line use: GM10440 (RRID:CVCL_EG73)
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; 3356; ENPP1; Simple; p.Pro305Thr (c.913C>A); ClinVar=VCV000029842; Zygosity=Homozygous (Coriell=GM10440).
Disease Generalized arterial calcification of infancy 1 (NCIt: C128805)
Generalized arterial calcification of infancy (ORDO: Orphanet_51608)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EG72 ! GM10439
Sex of cell Female
Age at sampling 29FW
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; GM10440
Cell line databases/resources CLO; CLO_0028523
Biological sample resources BioSample; SAMN00800025
Encyclopedic resources Wikidata; Q54844470
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number13