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Cellosaurus GM00489 (CVCL_Y985)

[Text version]
Cell line name GM00489
Synonyms GM0489; GM-489; GM 489
Accession CVCL_Y985
Resource Identification Initiative To cite this cell line use: GM00489 (RRID:CVCL_Y985)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
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 1Y
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9792862; DOI=10.1086/302118; PMCID=PMC1377545
Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R., Bernardini I., Guo J.-R., Thoene J., Gahl W.A.
CTNS mutations in an American-based population of cystinosis patients.
Am. J. Hum. Genet. 63:1352-1362(1998)

PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962
Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W., Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W., Scavina M., Sol-Church K., Butchbach M.E.R.
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
Mol. Genet. Genomic Med. 3:248-257(2015)

Cross-references
Cell line collections (Providers) Coriell; GM00489
Cell line databases/resources CLO; CLO_0025951
Encyclopedic resources Wikidata; Q54836258
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number13