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Cellosaurus IIMCBi004-A (CVCL_C1Q4)

[Text version]
Cell line name IIMCBi004-A
Synonyms PM-H1
Accession CVCL_C1Q4
Resource Identification Initiative To cite this cell line use: IIMCBi004-A (RRID:CVCL_C1Q4)
Comments From: International Institute of Molecular and Cell Biology; Warsaw; Poland.
Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[41] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36228511).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 47Y
Category Induced pluripotent stem cell

PubMed=36228511; DOI=10.1016/j.scr.2022.102931
Latoszek E., Piechota M., Liszewska E., Hansikova H., Klempir J., Muhlback A., Landwehrmeyer G.B., Kuznicki J., Czeredys M.
Generation of three human iPSC lines from patients with Huntington's disease with different CAG lengths and human control iPSC line from a healthy donor.
Stem Cell Res. 64:102931-102931(2022)

Cell line databases/resources hPSCreg; IIMCBi004-A
Biological sample resources BioSamples; SAMEA111377295
Encyclopedic resources Wikidata; Q114311719
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number5