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Cellosaurus IIMCBi004-A (CVCL_C1Q4)

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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; 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
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; IIMCBi004-A
Biological sample resources BioSamples; SAMEA111377295
Encyclopedic resources Wikidata; Q114311719
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6