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Cellosaurus GM02016 (CVCL_M991)

[Text version]
Cell line name GM02016
Synonyms GM-2016; GM 02016; GM17042; GM17332
Accession CVCL_M991
Resource Identification Initiative To cite this cell line use: GM02016 (RRID:CVCL_M991)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Arab.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 5391; IDUA; Simple; p.Gly409Arg (c.1225G>C); ClinVar=VCV000092627; Zygosity=Heterozygous (PubMed=8328452).
  • Mutation; HGNC; 5391; IDUA; Simple; p.Ter654Cysext*38 (c.1962A>T); ClinVar=VCV000242721; Zygosity=Heterozygous (PubMed=8328452).
HLA typing Source: PubMed=29959025
Class I
HLA-AA*02:01:01,30:02:01
HLA-BB*53:01:01,58:01:01
HLA-CC*04:01:01,07:18
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*02:01:02,03:01:01
HLA-DQDQA1*01:05:01,04:01:02
DQB1*04:02:01,05:01:01
HLA-DRDRB1*08:04:01,14:54:01
DRB3*02:02:01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 35Y
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)

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=8328452; PMCID=PMC1682364
Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am. J. Hum. Genet. 53:330-338(1993)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N., Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.S.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

Cross-references
Cell line collections (Providers) Coriell; GM02016
Coriell; GM17042
Coriell; GM17332
Cell line databases/resources CLO; CLO_0013619
CLO; CLO_0014644
CLO; CLO_0032306
Biological sample resources BioSample; SAMN00807390
Encyclopedic resources Wikidata; Q54837239
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number14