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Cellosaurus GM04234 (CVCL_EJ36)

[Text version]
Cell line name GM04234
Synonyms GM4234; GM04234A
Accession CVCL_EJ36
Resource Identification Initiative To cite this cell line use: GM04234 (RRID:CVCL_EJ36)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 438; ALPL; Simple; p.Arg71Cys (c.211C>T) (R54C, 378T); ClinVar=VCV000013663; Zygosity=Heterozygous (PubMed=1409720).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1409720; DOI=10.1073/pnas.89.20.9924
Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P.
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; GM04234
Cell line databases/resources CLO; CLO_0019478
Encyclopedic resources Wikidata; Q54838445
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number10