NA04506
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
MONOZYGOTIC TWIN PAIRS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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twin sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,t(13;14)(q34;q21)[20]/46,XX[5].arr(1-22,X)x2
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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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| Remarks |
Line HF25; monozygotic twin of GM04505A; 46,XX/46,XX,t(13;14)(13pter>13q34:: 14q21>14qter;14pter>14q21::13q34>13qter); 66%/30%; 4% of the cells examined show random chromosome loss |
| Cui H, Sepehrimanesh M, Coutee CA, Akter M, Hosain MA, Ding B, Protocol to image and quantify nucleocytoplasmic transport in cultured cells using fluorescent STAR protocols3:101813 2022 |
| PubMed ID: 36386872 |
| |
| Sepehrimanesh M, Akter M, Ding B, Direct conversion of adult fibroblasts into motor neurons STAR protocols2:100917 2021 |
| PubMed ID: 34746870 |
| |
| Readhead B, Hartley BJ, Eastwood BJ, Collier DA, Evans D, Farias R, He C, Hoffman G, Sklar P, Dudley JT, Schadt EE, Savic R, Brennand KJ, Expression-based drug screening of neural progenitor cells from individuals with schizophrenia Nature communications9:4412 2018 |
| PubMed ID: 30356048 |
| |
| Sarkar A, Mei A, Paquola ACM, Stern S, Bardy C, Klug JR, Kim S, Neshat N, Kim HJ, Ku M, Shokhirev MN, Adamowicz DH, Marchetto MC, Jappelli R, Erwin JA, Padmanabhan K, Shtrahman M, Jin X, Gage FH, Efficient Generation of CA3 Neurons from Human Pluripotent Stem Cells Enables Modeling of Hippocampal Connectivity In Vitro Cell stem cell22:684-697.e9 2017 |
| PubMed ID: 29727680 |
| |
| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 15349858 |
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| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 29691375 |
|