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Cellosaurus GM06110 (CVCL_0M06)

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Cell line name GM06110
Accession CVCL_0M06
Resource Identification Initiative To cite this cell line use: GM06110 (RRID:CVCL_0M06)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (Coriell=GM06110).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VH44 (GM27162)
Sex of cell Female
Age at sampling 6Y
Category Finite 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; GM06110
Cell line databases/resources CLO; CLO_0023629
Encyclopedic resources Wikidata; Q54842169
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15