ID   SDQLCHi041-A
AC   CVCL_A4XV
DR   hPSCreg; SDQLCHi041-A
DR   Wikidata; Q107116895
RX   PubMed=33550137;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Arg203Gln (c.608G>A); ClinVar=VCV001029750; Zygosity=Heterozygous (PubMed=33550137).
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple; p.Glu446Lys (c.1336G>A); ClinVar=VCV000553423; Zygosity=Heterozygous (PubMed=33550137).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y9M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33550137; DOI=10.1016/j.scr.2021.102212;
RA   Guan J.-Y., Tian G.-Y., Dong R., Zhang H.-Y., Yang X.-M., Li Y.,
RA   Gai Z.-T., Liu Y.;
RT   "Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient
RT   with mucopolysaccharidosis type IIIB.";
RL   Stem Cell Res. 52:102212-102212(2021).
//