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Cellosaurus BIHi034-A (CVCL_C6U0)

[Text version]
Cell line name BIHi034-A
Synonyms Chorea Huntington 4; CH4
Accession CVCL_C6U0
Resource Identification Initiative To cite this cell line use: BIHi034-A (RRID:CVCL_C6U0)
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
Miller D.C., Lisowski P., Lickfett S., Mlody B., Bunning M., Genehr C., Ulrich C., Wanker E.E., Diecke S., Priller J., Prigione A.
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; BIHi034-A
Encyclopedic resources Wikidata; Q117704215
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3