ID   GM02931
AC   CVCL_0M05
DR   CLO; CLO_0012830
DR   BioSample; SAMN00808172
DR   Coriell; GM02931
DR   Wikidata; Q54837754
RX   CelloPub=CLPUB00447;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Pro358Leu (c.1073C>T); ClinVar=VCV000631771; Zygosity=Homozygous (Coriell=GM02931).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//