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Cellosaurus GM08435 (CVCL_W034)

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Cell line name GM08435
Accession CVCL_W034
Resource Identification Initiative To cite this cell line use: GM08435 (RRID:CVCL_W034)
Comments Population: Caucasian; Italian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Unspecified (from autologous cell line GM08690).
Disease Hypophosphatasia (NCIt: C26798)
Hypophosphatasia (ORDO: Orphanet_436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W033 ! GM08373
CVCL_W036 ! GM08690
Sex of cell Female
Age at sampling 8M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM08435
Cell line databases/resources CLO; CLO_0010556
Biological sample resources BioSample; SAMN00798062
Encyclopedic resources Wikidata; Q54843209
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number14