NG20443
DNA from Fibroblast
Description:
PARKINSON DISEASE
Repository
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NIA Aging Cell Culture Repository
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Subcollection |
Heritable Diseases |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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1
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Relation to Proband
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proband
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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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PDL at Freeze |
4.32 |
Passage Frozen |
8 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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Remarks |
Clinically affected; torticollis to the left; choreiform movements of the arms and feet with restlessness of legs; brisk rapid gait; deep tendon reflexes hypoactive, but symmetric in upper extremities and hypoactive and symmetric at the knees and even less hypoactive at the ankles; no definite sensory disturbance; positive glabellar response and reduced eye blink; fine tremulousness of his body with a suggestion of resting tremor in right hand; seborrhea; suggestive cogwheeling rigidity; treated with Sinemet and sedatives, but still was restless and sleepless; adjusted lower dose of Sinemet, discontinued sedatives and addition of the antidepressant Elavil now have the Parkinsons under good control; no family history; culture grows slowly; see AG20444 Lymphoid |
Mollinari C, De Dominicis C, Lupacchini L, Sansone L, Caprini D, Casciola CM, Wang Y, Zhao J, Fini M, Russo M, Garaci E, Merlo D, Detection of Pathological Markers of Neurodegenerative Diseases following Microfluidic Direct Conversion of Patient Fibroblasts into Neurons International journal of molecular sciences23: 2021 |
PubMed ID: 35216271 |
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Mallon BS, Chenoweth JG, Johnson KR, Hamilton RS, Tesar PJ, Yavatkar AS, Tyson LJ, Park K, Chen KG, Fann YC, McKay RD., StemCellDB: The Human Pluripotent Stem Cell Database at the National Institutes of Health. Stem Cell Res10:57-66 2013 |
PubMed ID: 23117585 |
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S, Hoeckendorf B, Inoue D, Kellner T, Kirchmaier S, Mueller C, Reinhardt R, Schertel L, Schneider S, Sinn R, Wittbrodt B, Wittbrodt J, Weng Z, Whitfield TW, Wang J, Collins PJ, Aldred SF, Trinklein ND, Partridge EC, Myers RM, Dekker J, Jain G, Lajoie BR, Sanyal A, Balasundaram G, Bates DL, Byron R, Canfield TK, Diegel MJ, Dunn D, Ebersol AK, Ebersol AK, Frum T, Garg K, Gist E, Hansen RS, Boatman L, Haugen E, Humbert R, Jain G, Johnson AK, Johnson EM, Kutyavin TM, Lajoie BR, Lee K, Lotakis D, Maurano MT, Neph SJ, Neri FV, Nguyen ED, Qu H, Reynolds AP, Roach V, Rynes E, Sabo P, Sanchez ME, Sandstrom RS, Sanyal A, Shafer AO, Stergachis AB, Thomas S, Thurman RE, Vernot B, Vierstra J, Vong S, Wang H, Weaver MA, Yan Y, Zhang M, Akey JA, Bender M, Dorschner MO, Groudine M, MacCoss MJ, Navas P, Stamatoyannopoulos G, Kaul R, Dekker J, Stamatoyannopoulos JA, Dunham I, Beal K, Brazma A, Flicek P, Herrero J, Johnson N, Keefe D, Lukk M, Luscombe NM, Sobral D, Vaquerizas JM, Wilder SP, Batzoglou S, Sidow A, Hussami N, Kyriazopoulou-Panagiotopoulou S, Libbrecht MW, Schaub MA, Kundaje A, Hardison RC, Miller W, Giardine B, Harris RS, Wu W, Bickel PJ, Banfai B, Boley NP, Brown JB, Huang H, Li Q, Li JJ, Noble WS, Bilmes JA, Buske OJ, Hoffman MM, Sahu AO, Kharchenko PV, Park PJ, Baker D, Taylor J, Weng Z, Iyer S, Dong X, Greven M, Lin X, Wang J, Xi HS, Zhuang J, Gerstein M, Alexander RP, Balasubramanian S, Cheng C, Harmanci A, Lochovsky L, Min R, Mu XJ, Rozowsky J, Yan KK, Yip KY, Birney E, An integrated encyclopedia of DNA elements in the human genome Nature489:57-74 2011 |
PubMed ID: 22955616 |
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