HM23225
High Molecular Weight DNA from Stem cell
Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders with Trinucleotide Expansions |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Retroviral)
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Sample Source
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High Molecular Weight DNA from Stem cell
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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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Family History
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N
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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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ISCN
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46,XX[20]
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
| |
| Gene |
HD |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
143100.0001; HUNTINGTON DISEASE |
| Identified Mutation |
(CAG)n EXPANSION; Huntington disease is caused by expansion of a polymorphic trinucleotide repeat (CAG)n located in the coding region of the gene for huntingtin. The range of repeat numbers is 9 to 37 in normal individuals and 37 to 86 in HD patients. |
| Remarks |
Induced pluripotent stem cell line derived from GM04281 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); the HTT gene CAG repeat numbers for this iPSC line can be obtained by email request to nigms@coriell.org after purchase. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Deng N, Wu YY, Feng Y, Hsieh WC, Song JS, Lin YS, Tseng YH, Liao WJ, Chu YF, Liu YC, Chang EC, Liu CR, Sheu SY, Su MT, Kuo HC, Cohen SN, Cheng TH, Chemical interference with DSIF complex formation lowers synthesis of mutant huntingtin gene products and curtails mutant phenotypes Proceedings of the National Academy of Sciences of the United States of America119:e2204779119 2023 |
| PubMed ID: 35914128 |
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| Wu J, Ren J, Cui H, Xie Y, Tang Y, Rapid and high-purity differentiation of human medium spiny neurons reveals LMNB1 hypofunction and subtype necessity in modeling Huntington's disease Inflammation and regeneration44:7 2023 |
| PubMed ID: 38360694 |
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| Deng N, Zhang Y, Ma Z, Lin R, Cheng TH, Tang H, Snyder MP, Cohen SN, DSIF modulates RNA polymerase II occupancy according to template G + C content NAR genomics and bioinformatics4:lqac054 2022 |
| PubMed ID: 35910045 |
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| Palminha NM, Dos Santos Souza C, Griffin J, Liao C, Ferraiuolo L, El-Khamisy SF, Defective repair of topoisomerase I induced chromosomal damage in Huntington's disease Cellular and molecular life sciences : CMLS79:160 2021 |
| PubMed ID: 35224690 |
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| Le Cann K, Foerster A, Rösseler C, Erickson A, Hautvast P, Giesselmann S, Pensold D, Kurth I, Rothermel M, Mattis VB, Zimmer-Bensch G, von Hörsten S, Denecke B, Clarner T, Meents J, Lampert A, The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells Scientific reports11:6934 2020 |
| PubMed ID: 33767215 |
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| White JA, Krzystek TJ, Hoffmar-Glennon H, Thant C, Zimmerman K, Iacobucci G, Vail J, Thurston L, Rahman S, Gunawardena S, Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington's disease Acta neuropathologica communications8:97 2020 |
| PubMed ID: 32611447 |
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| Cheng PH, Li CL, Chang YF, Tsai SJ, Lai YY, Chan AW, Chen CM, Yang SH., miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models. Am J Hum Genet.Volume 93, Issue 2:306-312 2013 |
| PubMed ID: 23810380 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
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