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Cellosaurus GM01739 (CVCL_0M02)

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Cell line name GM01739
Synonyms GM-1739
Accession CVCL_0M02
Resource Identification Initiative To cite this cell line use: GM01739 (RRID:CVCL_0M02)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Tyr432_Arg435delTrp432ins (c.1307del9); Zygosity=Heterozygous (from autologous cell line GM01094).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0L98 ! GM01094
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
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; GM01739
Cell line databases/resources CLO; CLO_0030992
Biological sample resources BioSample; SAMN00807127
Encyclopedic resources Wikidata; Q54837050
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14