Cellosaurus cell line SDQLCHi041-A (CVCL

Cross-references
Cell line name	SDQLCHi041-A
Accession	CVCL_A4XV
Resource Identification Initiative	To cite this cell line use: SDQLCHi041-A (RRID:CVCL_A4XV)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg203Gln (c.608G>A); ClinVar=VCV001029750; Zygosity=Heterozygous (PubMed=33550137). Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Glu446Lys (c.1336G>A); ClinVar=VCV000553423; Zygosity=Heterozygous (PubMed=33550137).
Disease	Mucopolysaccharidosis type IIIB (NCIt: C84898) Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4Y9M
Category	Induced pluripotent stem cell
Publications	PubMed=33550137; DOI=10.1016/j.scr.2021.102212 Guan J.-Y., Tian G.-Y., Dong R., Zhang H.-Y., Yang X.-M., Li Y., Gai Z.-T., Liu Y. Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB. Stem Cell Res. 52:102212-102212(2021)
Cell line databases/resources	hPSCreg; SDQLCHi041-A
Encyclopedic resources	Wikidata; Q107116895
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5