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Cellosaurus BIHi035-A (CVCL_D0QS)

[Text version]
Cell line name BIHi035-A
Synonyms HD180
Accession CVCL_D0QS
Resource Identification Initiative To cite this cell line use: BIHi035-A (RRID:CVCL_D0QS)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36863131).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W576 (GM09197)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=36863131; DOI=10.1016/j.scr.2023.103056
Miller D.C., Lisowski P., Genehr C., Wanker E.E., Priller J., Prigione A., Diecke S.
Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-polyQ sequence.
Stem Cell Res. 68:103056-103056(2023)

Cross-references
Cell line databases/resources hPSCreg; BIHi035-A
Biological sample resources BioSamples; SAMEA13371752
Encyclopedic resources Wikidata; Q123030790
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3