ID   GM00156
AC   CVCL_0L90
SY   GM-156; GM 00156
DR   CLO; CLO_0025860
DR   Coriell; GM00156
DR   Wikidata; Q54836068
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8650226;
RX   PubMed=34411609;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Arg626Ter (c.1876C>T); ClinVar=VCV000001561; Zygosity=Homozygous (Coriell=GM00156).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; 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).
//
RX   PubMed=8650226; DOI=10.1073/pnas.93.12.6101;
RA   Zhao H.G., Li H.-H., Bach G., Schmidtchen A., Neufeld E.F.;
RT   "The molecular basis of Sanfilippo syndrome type B.";
RL   Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996).
//
RX   PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785;
RA   Huang W., Cheng Y.-S., Yang S., Swaroop M., Xu M., Huang W.-W.,
RA   Zheng W.;
RT   "Disease modeling for mucopolysaccharidosis type IIIB using patient
RT   derived induced pluripotent stem cells.";
RL   Exp. Cell Res. 407:112785.1-112785.10(2021).
//