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
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM18075 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Apparently Healthy individual with a body mass index (BMI) within normal range; non-obese control; body mass index = 23; 160 pounds |
| Gnimpieba E, Diing DM, Ailts J, Cucak A, Gakh O, Isaya G, Vitiello S, Wang S, Pierce P, Cooper A, Roux K, Rogers LK, Vitiello PF, Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions Research square: 2024 |
| PubMed ID: 38746130 |
| |
| Kurosaki T, Imamachi N, Pröschel C, Mitsutomi S, Nagao R, Akimitsu N, Maquat LE, Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay Nature cell biology23:40-48 2019 |
| PubMed ID: 33420492 |
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| Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Melnyk S, James SJ, Oxidative stress induces mitochondrial dysfunction in a subset of autistic lymphoblastoid cell lines Translational psychiatry4:e377 2013 |
| PubMed ID: 24690598 |
| |
| Goula AV, Stys A, Chan JP, Trottier Y, Festenstein R, Merienne K, Transcription elongation and tissue-specific somatic CAG instability PLoS genetics8:e1003051 2012 |
| PubMed ID: 23209427 |
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| James SJ1, Rose S, Melnyk S, Jernigan S, Blossom S, Pavliv O, Gaylor DW., Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J23(8):2374-83 2009 |
| PubMed ID: 19307255 |
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| Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008 |
| PubMed ID: 18485778 |
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| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
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