Cellosaurus logo
expasy logo

Cellosaurus GM09545 (CVCL_7493)

[Text][XML][JSON]
Cell line name GM09545
Accession CVCL_7493
Resource Identification Initiative To cite this cell line use: GM09545 (RRID:CVCL_7493)
Comments Population: Caucasian; Italian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9086; PLP1; Simple; p.Pro216Ser (c.646C>T) (P215S); ClinVar=VCV000011073; Zygosity=Hemizygous (Coriell=GM09545).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F209 ! GM09546
Sex of cell Male
Age at sampling 20Y
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; GM09545
Cell line databases/resources CLO; CLO_0011433
Encyclopedic resources Wikidata; Q54843836
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number18