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Cellosaurus GM10439 (CVCL_EG72)

[Text version]
Cell line name GM10439
Accession CVCL_EG72
Resource Identification Initiative To cite this cell line use: GM10439 (RRID:CVCL_EG72)
Comments Population: Caucasian.
Derived from site: In situ; Placenta; UBERON=UBERON_0001987.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3356; ENPP1; Simple; p.Pro305Thr (c.913C>A); ClinVar=VCV000029842; Zygosity=Homozygous (Coriell=GM10439).
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_EG73 ! GM10440
Sex of cell Female
Age at sampling 29FW
Category Finite 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; GM10439
Cell line databases/resources CLO; CLO_0028526
Biological sample resources BioSample; SAMN00800023
Encyclopedic resources Wikidata; Q54844469
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13