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Cellosaurus SDQLCHi041-A (CVCL_A4XV)

[Text version]
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; 7632; NAGLU; Simple; p.Arg203Gln (c.608G>A); ClinVar=VCV001029750; Zygosity=Heterozygous (PubMed=33550137).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi041-A
Encyclopedic resources Wikidata; Q107116895
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4