Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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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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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 |
6.66 |
| Passage Frozen |
3 |
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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 and by Chromosome Analysis |
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| Remarks |
46,XX; 6% of cells show random chromosome loss/gain |
| Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR, Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene medRxiv : the preprint server for health sciences: 2023 |
| PubMed ID: 36778397 |
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| Cotticelli MG, Xia S, Truitt R, Doliba NM, Rozo AV, Tobias JW, Lee T, Chen J, Napierala JS, Napierala M, Yang W, Wilson RB, Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response Disease models & mechanisms16: 2022 |
| PubMed ID: 36107856 |
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| Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Annals of neurology16: 2021 |
| PubMed ID: 34652821 |
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| Sepehrimanesh M, Akter M, Ding B, Direct conversion of adult fibroblasts into motor neurons STAR protocols2:100917 2021 |
| PubMed ID: 34746870 |
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| Al-Saaidi RA1, Rasmussen TB2, Birkler RID1, Palmfeldt J1, Beqqali A3, Pinto YM4, Nissen PH5, Baandrup U6, Mølgaard H2, Hey TM7, Eiskjaer H2, Bross P1, Mogensen J7., The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. European Journal of Heart Failure
2:100917 2018 |
| PubMed ID: 29943882 |
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| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:100917 2018 |
| PubMed ID: 30567591 |
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| Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB, Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia Scientific reports8:5007 2017 |
| PubMed ID: 29568068 |
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| Yealland G, Battaglia G, Bandmann O, Mortiboys H, Rescue of mitochondrial function in parkin-mutant Fibroblasts using drug loaded PMPC-PDPA polymersomes and tubular polymersomes Neuroscience letters8:5007 2016 |
| PubMed ID: 27412236 |
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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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| Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006 |
| PubMed ID: 17101793 |
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| Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006 |
| PubMed ID: 16547157 |
| Passage Frozen |
3 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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