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Cellosaurus GM00636 (CVCL_H162)

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Cell line name GM00636
Synonyms GM-636
Accession CVCL_H162
Resource Identification Initiative To cite this cell line use: GM00636 (RRID:CVCL_H162)
Comments Population: Caucasian.
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; HGNC:4296; GLA; Simple; c.1187delAAG; Zygosity=Hemizygous (Coriell=GM00636).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18FW
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM00636
Cell line databases/resources CLO; CLO_0028873
Encyclopedic resources Wikidata; Q54836358
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number15