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Cellosaurus IIMCBi005-A (CVCL_C1Q5)

[Text version]
Cell line name IIMCBi005-A
Synonyms EM-K3
Accession CVCL_C1Q5
Resource Identification Initiative To cite this cell line use: IIMCBi005-A (RRID:CVCL_C1Q5)
Comments From: International Institute of Molecular and Cell Biology; Warsaw; Poland.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[53] (c.52CAG(53)) (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 34Y
Category Induced pluripotent stem cell
Publications

PubMed=36228511; DOI=10.1016/j.scr.2022.102931
Ewelina Latoszek, Marta Piechota, Ewa Liszewska, Hana Hansikova, Jiri Klempir, Alzbeta Muhlback, Georg Bernhard Landwehrmeyer, Jacek Kuznicki, Magdalena Czeredys;
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)

Cross-references
Cell line databases/resources hPSCreg; IIMCBi005-A
Biological sample resources BioSamples; SAMEA111377735
Encyclopedic resources Wikidata; Q114311720
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6