Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Venezuelan Huntington Disease
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
|
52
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Relation to Proband
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maternal cousin
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Code 426; unaffected; last examined on 3/27/81; affected sibs are GM05621Z, 04799, & 05613Z; see GM04794A Lymphoid |
| Kino Y, Washizu C, Kurosawa M, Oma Y, Hattori N, Ishiura S, Nukina N, Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins Human molecular genetics24:740-56 2014 |
| PubMed ID: 25274774 |
| |
| Liu CR, Chang CR, Chern Y, Wang TH, Hsieh WC, Shen WC, Chang CY, Chu IC, Deng N, Cohen SN, Cheng TH, Spt4 is selectively required for transcription of extended trinucleotide repeats Cell148:690-701 2011 |
| PubMed ID: 22341442 |
| Passage Frozen |
2 |
| Split Ratio |
1:2 |
| 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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