Description:
HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
6
|
|
Relation to Proband
|
sister-in-law
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,1qh+
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Clinically normal; see GM04191 Lymphoid; mother of GM04194, 04198, and 04222; 46, XX,1qh+ |
| Xu S, Li G, Ye X, Chen D, Chen Z, Xu Z, Daniele M, Tambone S, Ceccacci A, Tomei L, Ye L, Yu Y, Solbach A, Farmer SM, Stimming EF, McAllister G, Marchionini DM, Zhang S, HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis PLoS genetics18:e1010302 2022 |
| PubMed ID: 35853002 |
| |
| Overley-Adamson B, Artlett CM, Stephens C, Sassi-Gaha S, Weis RD, Thacker JD, Targeting the unfolded protein response, XBP1, and the NLRP3 inflammasome in fibrosis and cancer Cancer biology & therapy15:452-62 2014 |
| PubMed ID: 24496016 |
| |
| Artlett CM1, Sassi-Gaha S, Rieger JL, Boesteanu AC, Feghali-Bostwick CA, Katsikis PD., The inflammasome activating caspase 1 mediates fibrosis and myofibroblast differentiation in systemic sclerosis. Arthritis Rheum63(11):3563-74 2011 |
| PubMed ID: 21792841 |
| |
| Loughlin DT1, Artlett CM., Modification of collagen by 3-deoxyglucosone alters wound healing through differential regulation of p38 MAP kinase. PLoS One6(5):3563-74 2011 |
| PubMed ID: 21573155 |
| |
| Loughlin DT1, Artlett CM., Precursor of advanced glycation end products mediates ER-stress-induced caspase-3 activation of human dermal fibroblasts through NAD(P)H oxidase 4. PLoS One5(6):3563-74 2010 |
| PubMed ID: 20559423 |
| |
| Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al, A polymorphic DNA marker genetically linked to Huntington's disease. Nature306:234-8 1983 |
| PubMed ID: 6316146 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|