Cellosaurus logo
expasy logo

Cellosaurus HT142C (CVCL_B5TJ)

[Text][XML][JSON]
Cell line name HT142C
Synonyms HT142 (C); GM28383; GM28383*B
Accession CVCL_B5TJ
Resource Identification Initiative To cite this cell line use: HT142C (RRID:CVCL_B5TJ)
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:5391; IDUA; Simple; c.590-7G>A (IVS5AS-7G>A); ClinVar=VCV000222996; Zygosity=Heterozygous (Coriell=GM28383).
  • Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Heterozygous (Coriell=GM28383).
Disease Scheie syndrome (NCIt: C61265)
Scheie syndrome (ORDO: Orphanet_93474)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1V17 (GM01256)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=30052969; DOI=10.1093/hmg/ddy259; PMCID=PMC6454448
Manju Swaroop, Matthew J. Brooks, Linn Gieser, Anand Swaroop, Wei Zheng;
Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.
Hum. Mol. Genet. 27:3612-3626(2018)

Cross-references
Cell line collections (Providers) Coriell; GM28383
Encyclopedic resources Wikidata; Q111733451
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6