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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
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)

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