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Cellosaurus GM02048 (CVCL_M927)

[Text version]
Cell line name GM02048
Synonyms GM-2048
Accession CVCL_M927
Resource Identification Initiative To cite this cell line use: GM02048 (RRID:CVCL_M927)
Comments Population: Jewish; Ashkenazi.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (from autologous cell line GM02533).
  • Mutation; HGNC; 13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (from autologous cell line GM02533).
Disease Mucolipidosis type IV (NCIt: C84896)
Mucolipidosis type IV (ORDO: Orphanet_578)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_M926 ! GM02533
Sex of cell Female
Age at sampling 2Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM02048
Cell line databases/resources CLO; CLO_0032549
Biological sample resources BioSample; SAMN00807426
Encyclopedic resources Wikidata; Q54837263
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number18