ID   GM01426
AC   CVCL_0M01
SY   GM-1426
DR   CLO; CLO_0030778
DR   BioSample; SAMN00803880
DR   Coriell; GM01426
DR   Wikidata; Q54836823
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=30933722;
RX   PubMed=34411609;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Glu153Lys (c.457G>A); ClinVar=VCV001067431; Zygosity=Homozygous (Coriell=GM01426).
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   1Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//
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=30933722; DOI=10.1016/j.scr.2019.101427;
RA   Huang W., Xu M., Li R., Baskfield A., Kouznetsova J., Beers J.K.,
RA   Zou J.-H., Liu C.-Y., Zheng W.;
RT   "An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB
RT   patient carrying homozygous mutation of p.Glu153Lys in the NAGLU
RT   gene.";
RL   Stem Cell Res. 37:101427-101427(2019).
//
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).
//