ID   TRNDi006-A
AC   CVCL_UL25
SY   HT527A
DR   hPSCreg; TRNDi006-A
DR   Wikidata; Q98133594
RX   PubMed=30933722;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Glu153Lys (c.457G>A); ClinVar=VCV001067431; Zygosity=Homozygous (PubMed=30933722).
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)
HI   CVCL_0M01 ! GM01426
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
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).
//