ID   NCATS-CL7567
AC   CVCL_B5TN
DR   Wikidata; Q112129407
RX   PubMed=34411609;
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 (from parent cell line).
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: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785; PMCID=PMC8440473;
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).
//