| Cell line name |
HD-iPShom 4F-3 |
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| Accession |
CVCL_W314 |
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| Resource Identification Initiative |
To cite this cell line use: HD-iPShom 4F-3 (RRID:CVCL_W314) |
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| Comments |
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[39-43] (c.52CAG(39-43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Homozygous (PubMed=22405424).
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| Disease |
Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
44Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=22405424; DOI=10.1016/j.nbd.2011.12.042
Stefano Camnasio, Alessia Delli Carri, Angelo Lombardo, Iwona Grad, Caterina Mariotti, Alessia Castucci, Bjorn Rozell, Pietro Lo Riso, Valentina Castiglioni, Chiara Zuccato, Christelle Rochon ...Show all 22 authors... , Yasuhiro Takashima, Giuseppe R. Diaferia, Ida Biunno, Cinzia Gellera, Marisa Elisabetta Elena Jaconi Devaud, Austin Gerard Smith, Outi Hovatta, Luigi Naldini, Stefano Di Donato, Anis Feki, Elena Cattaneo; Show fewer authors
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.
Neurobiol. Dis. 46:41-51(2012) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q54882094
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 10 |
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