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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2
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Relation to Proband
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spouse
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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 |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Normal; see GM02148 Lymphoid |
| Nath S, Caron NS, May L, Gluscencova OB, Kolesar J, Brady L, Kaufman BA, Boulianne GL, Rodriguez AR, Tarnopolsky MA, Truant R, Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline Human genome variation9:10 2022 |
| PubMed ID: 35422034 |
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| 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 |
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| Wilson PF, Nagasawa H, Warner CL, Fitzek MM, Little JB, Bedford JS, Radiation Sensitivity of Primary Fibroblasts from Hereditary Retinoblastoma Family Members and Some Apparently Normal Controls: Colony Formation Ability during Continuous Low-Dose-Rate Gamma Irradiation Radiation research169:483-94 2008 |
| PubMed ID: 18439048 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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| Li CY, Nagasawa H, Dahlberg WK, Little JB, Diminished capacity for p53 in mediating a radiation-induced G1 arrest in established human tumor cell lines. Oncogene11:1885-92 1995 |
| PubMed ID: 7478618 |
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| Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF, Effect of dose rate on the survival of irradiated human skin fibroblasts. Radiat Res132:375-9 1992 |
| PubMed ID: 1475361 |
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| Taylor YC, Duncan PG, Zhang X, Wright WD, Differences in the DNA supercoiling response of irradiated cell lines from ataxia-telangiectasia versus unaffected individuals. Int J Radiat Biol59:359-71 1991 |
| PubMed ID: 1671687 |
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| Taylor YC, Zhang XF, Parsian AJ, Duncan PG, Image analysis-based measurement of DNA supercoiling changes in transformed and nontransformed human cell lines. Exp Cell Res197:222-8 1991 |
| PubMed ID: 1659987 |
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| Nagasawa H, Burke MJ, Little FF, McCone EF, Chan GL, Little JB, Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome. Teratog Carcinog Mutagen8:25-33 1988 |
| PubMed ID: 2897722 |
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| Nagasawa H, Little JB, Radiosensitivities of ten apparently normal human diploid fibroblast strains to cell killing, G2-phase chromosomal aberrations, and cell cycle delay. Cancer Res48:4535-8 1988 |
| PubMed ID: 3396006 |
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| Nove J, Little JB, Mayer PJ, Troilo P, Nichols WW, Hypersensitivity of cells from a new chromosomal-breakage syndrome to DNA-damaging agents. Mutat Res163:255-62 1986 |
| PubMed ID: 3785261 |
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| Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging Mutat Res163:pp 315-344 1985 |
| PubMed ID: 3785261 |
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| Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983 |
| PubMed ID: 6220707 |
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| Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983 |
| PubMed ID: 6621576 |
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| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 6458814 |
| Passage Frozen |
8 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Ham's F12 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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