Cellosaurus logo
expasy logo

Cellosaurus GM02552 (CVCL_0M04)

[Text][XML][JSON]
Cell line name GM02552
Synonyms GM 02552
Accession CVCL_0M04
Resource Identification Initiative To cite this cell line use: GM02552 (RRID:CVCL_0M04)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg297Ter (c.889C>T); ClinVar=VCV000001562; Zygosity=Heterozygous (Coriell=GM02552).
  • Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg643His (c.1928G>A); ClinVar=VCV000001563; Zygosity=Heterozygous (Coriell=GM02552).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
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)

PubMed=8650226; DOI=10.1073/pnas.93.12.6101; PMCID=PMC39196
Hong G. Zhao, Hong-Hua Li, Gideon Bach, Artur Schmidtchen, Elizabeth Fondal Neufeld;
The molecular basis of Sanfilippo syndrome type B.
Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996)

Cross-references
Cell line collections (Providers) Coriell; GM02552
Cell line databases/resources CLO; CLO_0033449
Encyclopedic resources Wikidata; Q54837544
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15