Cellosaurus logo
expasy logo

Cellosaurus NCATS-CL7568 (CVCL_B5TP)

[Text version]
Cell line name NCATS-CL7568
Accession CVCL_B5TP
Resource Identification Initiative To cite this cell line use: NCATS-CL7568 (RRID:CVCL_B5TP)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Glu153Lys (c.457G>A); ClinVar=VCV001067431; 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_0M01 (GM01426)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=34411609; DOI=10.1016/j.yexcr.2021.112785; PMCID=PMC8440473
Huang W., Cheng Y.-S., Yang S., Swaroop M., Xu M., Huang W.-W., Zheng W.
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; Q112129408
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5