Cell line name |
GM00378 |
Synonyms |
GM0378; GM-378 |
Accession |
CVCL_Y983 |
Resource Identification Initiative |
To cite this cell line use: GM00378 (RRID:CVCL_Y983) |
Comments |
Population: Caucasian. Derived from sampling site: Cell type=Fibroblast. |
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 |
Female |
Age at sampling |
7Y |
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 |
Coriell; GM00378
|
Cell line databases/resources |
CLO; CLO_0026290
|
Encyclopedic resources |
Wikidata; Q54836193
|
Entry history |
Entry creation | 10-Apr-2015 |
Last entry update | 22-Sep-2022 |
Version number | 15 |
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