Cellosaurus logo
expasy logo

Cellosaurus BIHi033-A (CVCL_C6TZ)

[Text version]
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; 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; BIHi033-A
Encyclopedic resources Wikidata; Q117704214
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2