Cellosaurus logo
expasy logo

Cellosaurus GM06077 (CVCL_Y800)

[Text][XML][JSON]
Cell line name GM06077
Accession CVCL_Y800
Resource Identification Initiative To cite this cell line use: GM06077 (RRID:CVCL_Y800)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=32656337).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children couldn't be retrieved from the API
Originate from same individual CVCL_Y794 ! GM04602
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Publications

PubMed=23680132; DOI=10.1016/j.jmoldx.2013.03.008; PMCID=PMC3699699
Lisa V. Kalman, Jack C. Tarleton, Monica Hitch, Madhuri Hegde, Nick L. Hjelm, Elizabeth M. Berry-Kravis, Li-Li Zhou, James E. Hilbert, Elizabeth A. Luebbe, Richard T. Moxley 3rd, Lorraine Hellenga Toji;
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
J. Mol. Diagn. 15:518-525(2013)

PubMed=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000
Gustavo A. Ruiz Buendia, Marion Leleu, Flavia Marzetta, Ludovica Vanzan, Jennifer Y. Tan, Victor Ythier, Emma L. Randall, Ana Claudia Marques, Tuncay Baubec, Rabih Murr, Ioannis Xenarios, Vincent Dion;
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion.
Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020)

Cross-references
Cell line collections (Providers) Coriell; GM06077
Cell line databases/resources CLO; CLO_0023602
Encyclopedic resources Wikidata; Q54842152
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14