Description:
HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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6
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Relation to Proband
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brother-in-law
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Normal spouse of GM02187; see GM02188 Lymphoid; 46,XY; 10% of cells show random chromosome loss |
| 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 |
| |
| Frison M, Faccenda D, Abeti R, Rigon M, Strobbe D, England-Rendon BS, Cash D, Barnes K, Sadeghian M, Sajic M, Wells LA, Xia D, Giunti P, Smith K, Mortiboys H, Turkheimer FE, Campanella M, The translocator protein (TSPO) is prodromal to mitophagy loss in neurotoxicity Molecular psychiatry18:e1010302 2020 |
| PubMed ID: 33664474 |
| |
| Bell SM, Barnes K, Clemmens H, Al-Rafiah AR, Al-Ofi EA, Leech V, Bandmann O, Shaw PJ, Blackburn DJ, Ferraiuolo L, Mortiboys H, Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease Journal of molecular biology430:3942-3953 2018 |
| PubMed ID: 30171839 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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 |
- |
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