Name細胞名稱：NTCC? GM24676 MITOCHONDRIAL MYOPATHY B-Lymphocyte Cell Line
線粒體肌病細胞株
Description描述：Clinically affected; symptom onset at age 48 years; diagnosed by specialist at age 53 years; rheumatoid arthritis; lupus; immunodeficiency; pain and weakness in arms and legs; fatigue; exercise intolerance; dizziness; balance disorder (vestibular testing showed a central process); headaches; blurry vision; syncope; hearing loss; excessive drooling; difficultly chewing; dysphagia; nausea; arrhythmia; sleep disturbances; decreased concentration, confusion, and memory loss; mild left ulnar nerve compression at elbow decreasing conduction velocity; mild left carpal tunnel syndrome; restless leg syndrome; ataxia; GERD (gastroesophageal reflux disease); colon polyps; urologic disorder; sciatica; osteoporosis; bowel and urinary incontinence; anemia; lymphadenopathy; lymphopenia; MRI of lumbosacral spine revealed 4mm of anterolistheses of L5 on S1, bulging disks, mild levocurvature and degenerative changes of lower lumbar spine; MRI of brain revealed mild chronic small vessel ischemic changes and incidental pineal gland cyst (1.0x1.0cm); EMG showed reduction in firing frequency of motor units; biopsy of vastus lateralis muscle revealed only rare degenerating/regenerating fibers; histochemistry slides of biopsy show extensive mitochondrial proliferation in almost all fibers, mild nonspecific abnormalities of the cristae, and glycogen interspersed through mitochondria - consistent with mitochondriopathy; biochemical profile for mitochondrial myopathy shows high levels of succinate dehydrogenase (2.19 mcmol/min/g [ref 0.45-1.29]), succinate cytochrome c reductase (1.95 mcmol/min/g [ref 0.42-1.65]), cytochrome c oxidase (4.66 mcmol/min/g [ref 1.03-3.83]), and citrate synthase (44.85 mcmol/min/g [ref 6.86-24.62]), serum CK level normal; citrate synthase activity found to be 6.6 standard deviations above the normal reference mean of 15.74 +/- 4.44 umol/min/g, partial reduction in complexes I and I-III; hematology panel revealed high neutrophil percentage, low lymphocyte count and percentage, low HCT, high MCV, and high MCH; low levels of IgA; high levels of ALT and AST; lymphocyte subset panel revealed high CD3 percentage, high CD4 percentage, low CD19 percentage, high CD56 percentage, low CD19 count; mitochondrial DNA sequence analysis was negative for pathogenic mutations; medications and supplements include: hydrocodone-acetaminophen, bisacodyl, esomeprazole, folic acid, linaclotide, lorazepam, meclizine, methotrexate, ondansetron, gabapentin, baclofen, meloxicam, Prilosec, melatonin; tylenol; allergic to plaquenil, sulfa drugs, tetracycline hcl; family history of stroke syndrome, hypertension, and heart disease; use of rollator walker;
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24676
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:53 YR
Gender性別:Female
Cell Type細胞類型: MITOCHONDRIAL MYOPATHY
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:Swedish/German
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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