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Cellosaurus GM04236 (CVCL_EJ37)

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Cell line name GM04236
Synonyms GM4236; GM04236A
Accession CVCL_EJ37
Resource Identification Initiative To cite this cell line use: GM04236 (RRID:CVCL_EJ37)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:438; ALPL; Simple; p.Asp294Ala (c.881A>C) (D277A, 1057C); ClinVar=VCV000013664; Zygosity=Heterozygous (PubMed=1409720).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
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)

PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246
Paula S. Henthorn, Michael Raducha, Kenton N. Fedde, Mary Ann Lafferty, Michael Peter Whyte;
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992)

Cross-references
Cell line collections (Providers) Coriell; GM04236
Cell line databases/resources CLO; CLO_0019476
Encyclopedic resources Wikidata; Q54838448
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number11