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Cellosaurus NCATS-CL7569 (CVCL_B5TQ)

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Cell line name NCATS-CL7569
Accession CVCL_B5TQ
Resource Identification Initiative To cite this cell line use: NCATS-CL7569 (RRID:CVCL_B5TQ)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Arg626Ter (c.1876C>T); ClinVar=VCV000001561; Zygosity=Homozygous (from parent cell line).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0L90 (GM00156)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785; PMCID=PMC8440473
Wei Huang, Yu-Shan Cheng, Shu Yang, Manju Swaroop, Miao Xu, Wen-Wei Huang, Wei Zheng;
Disease modeling for mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Exp. Cell Res. 407:112785.1-112785.10(2021)

Cross-references
Encyclopedic resources Wikidata; Q112129409
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5