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Cellosaurus GM00379 (CVCL_Y984)

[Text version]
Cell line name GM00379
Synonyms GM0379; GM-379
Accession CVCL_Y984
Resource Identification Initiative To cite this cell line use: GM00379 (RRID:CVCL_Y984)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2518; CTNS; Simple; p.Trp138Ter (c.414G>A); ClinVar=VCV000004443; Zygosity=Heterozygous (PubMed=28649545).
  • Mutation; HGNC; 2518; CTNS; Simple; c.970+2T>C (IVS11+2T>C); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=28649545).
Disease Nephropathic cystinosis (NCIt: C129932)
Nephropathic infantile cystinosis (ORDO: Orphanet_411629)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (1986)

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=28649545; DOI=10.1016/j.ymgmr.2015.10.007
Zykovich A., Kinkade R., Royal G., Zankel T.
CTNS mutations in publicly-available human cystinosis cell lines.
Mol. Genet. Metab. Rep. 5:63-66(2015)

Cross-references
Cell line collections (Providers) Coriell; GM00379
Cell line databases/resources CLO; CLO_0026291
Encyclopedic resources Wikidata; Q54836194
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number17