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Cellosaurus IIMCBi008-A (CVCL_C9EB)

[Text version]
Cell line name IIMCBi008-A
Synonyms jHD-V1
Accession CVCL_C9EB
Resource Identification Initiative To cite this cell line use: IIMCBi008-A (RRID:CVCL_C9EB)
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[54] (c.52CAG(54)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=37651831).
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 30Y
Category Induced pluripotent stem cell
Publications

PubMed=37651831; DOI=10.1016/j.scr.2023.103194
Piechota M., Latoszek E., Liszewska E., Hansikova H., Klempir J., Muhlback A., Landwehrmeyer G.B., Kuznicki J., Czeredys M.
Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors.
Stem Cell Res. 71:103194-103194(2023)

Cross-references
Cell line databases/resources hPSCreg; IIMCBi008-A
Biological sample resources BioSamples; SAMEA113940121
Encyclopedic resources Wikidata; Q123032671
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3