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Cellosaurus GM07983 (CVCL_V342)

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Cell line name GM07983
Accession CVCL_V342
Resource Identification Initiative To cite this cell line use: GM07983 (RRID:CVCL_V342)
Comments Population: Caucasian; Austrian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (Coriell=GM07983).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V341 ! GM07982
Sex of cell Female
Age at sampling 25Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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)

Cross-references
Cell line collections (Providers) Coriell; GM07983
Cell line databases/resources CLO; CLO_0010004
Encyclopedic resources Wikidata; Q54843027
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number18