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Cellosaurus BIHi033-A (CVCL_C6TZ)

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Cell line name BIHi033-A
Synonyms Chorea Huntington 3; CH3
Accession CVCL_C6TZ
Resource Identification Initiative To cite this cell line use: BIHi033-A (RRID:CVCL_C6TZ)
Comments From: Berlin Institute of Health; Berlin; Germany.
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[44] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36434993).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35-45Y
Category Induced pluripotent stem cell
Publications

PubMed=36434993; DOI=10.1016/j.scr.2022.102976
Duncan C. Miller, Pawel Lisowski, Selene Lickfett, Barbara Mlody, Miriam Bunning, Carolin Genehr, Claas Ulrich, Erich E. Wanker, Sebastian Diecke, Josef Priller, Alessandro Prigione;
Generation of induced pluripotent stem cells from three individuals with Huntington's disease.
Stem Cell Res. 65:102976-102976(2022)

Cross-references
Cell line databases/resources hPSCreg; BIHi033-A
Encyclopedic resources Wikidata; Q117704214
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3