ID   GM06110
AC   CVCL_0M06
DR   CLO; CLO_0023629
DR   Coriell; GM06110
DR   Wikidata; Q54842169
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (Coriell=GM06110).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84897; Mucopolysaccharidosis type IIIA
DI   ORDO; Orphanet_79269; Sanfilippo syndrome type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
CH   CVCL_VH44 ! GM27162
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//