ID   GM01739
AC   CVCL_0M02
SY   GM-1739
DR   CLO; CLO_0030992
DR   BioSample; SAMN00807127
DR   Coriell; GM01739
DR   Wikidata; Q54837050
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10818; SGSH; Simple; p.Tyr432_Arg435delTrp432ins (c.1307del9); Zygosity=Heterozygous (from autologous cell line GM01094).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84897; Mucopolysaccharidosis type IIIA
DI   ORDO; Orphanet_79269; Sanfilippo syndrome type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0L98 ! GM01094
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 13
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//