Cellosaurus logo
expasy logo

Cellosaurus GM13203 (CVCL_N205)

[Text][XML][JSON]
Cell line name GM13203
Synonyms GM17358
Accession CVCL_N205
Resource Identification Initiative To cite this cell line use: GM13203 (RRID:CVCL_N205)
Comments Part of: Human variation panel.
Population: Caribbean; Haitian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5389; IDS; Simple; p.His70Profs*29 (c.208dupC) (c.208insC); ClinVar=VCV000195037; Zygosity=Hemizygous (Coriell=GM13203).
Disease Hunter syndrome (NCIt: C61260)
Mucopolysaccharidosis type 2 (ORDO: Orphanet_580)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UL28 (TRNDi008-A)CVCL_B5V3 (TRNDi008-B)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Publications

PubMed=34990619; DOI=10.1016/j.yexcr.2021.113007; PMCID=PMC8810712
Jun-Jie Hong, Yu-Shan Cheng, Shu Yang, Manju Swaroop, Miao Xu, Jeanette K. Beers, Ji-Zhong Zou, Wen-Wei Huang, Juan Jose Marugan, Xiu-Jun Cai, Wei Zheng;
iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.
Exp. Cell Res. 412:113007.1-113007.10(2022)

Cross-references
Cell line collections (Providers) Coriell; GM13203
Coriell; GM17358
Cell line databases/resources CLO; CLO_0013207
CLO; CLO_0013728
Biological sample resources BioSample; SAMN00802196
Encyclopedic resources Wikidata; Q54846379
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number17