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Cellosaurus GM02931 (CVCL_0M05)

[Text version]
Cell line name GM02931
Accession CVCL_0M05
Resource Identification Initiative To cite this cell line use: GM02931 (RRID:CVCL_0M05)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7632; NAGLU; Simple; p.Pro358Leu (c.1073C>T); ClinVar=VCV000631771; Zygosity=Homozygous (Coriell=GM02931).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UJ73 (IMEDEAi005-A)CVCL_UJ74 (IMEDEAi005-B)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM02931
Cell line databases/resources CLO; CLO_0012830
Biological sample resources BioSample; SAMN00808172
Encyclopedic resources Wikidata; Q54837754
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number14