GM26035囊性白质脑病 | IBA57，酿酒酵母，同源物； IBA57 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26035 CYSTIC LEUKOENCEPHALOPATHY | IBA57, S. CEREVISIAE, HOMOLOG OF; IBA57 Cell Line
囊性白质脑病 | IBA57，酿酒酵母，同源物； IBA57细胞株
Description描述：Clinically affected; familial cavitating (cystic) leukoencephalopathy; cavitating leukodystrophy; spasticity/hypertonia; bilateral dislocated hips; scissoring of both legs; sustained clonus of left foot; 3 beats of clonus of right foot; anemia; chronic diarrhea; seizures (shaking, eye rolling, cyanosis); allergic conjunctivitis; anorexia; pain; bilateral optic atrophy at 8 years of age; developmental delay/mental retardation; milestones: babbles, has rolled over previously at 5 month of age but no longer does, does not sit or crawl; muscle biopsy at age 6 years old was significant for variation in muscle fiber size (smallness of type 2 fibers); structural studies did not show mitochondrial abnormality and no evidence of accumulation of lipid or glycogen; testing was normal for mitochondrial complexes I, II, III, and IV; MRI at age 6 years old reveals abnormal spectra in the white matter and basal ganglia, with decreased N-acetylaspartate and possible lactate metabolites; extreme atrophy of corpus callosum and white matter, that was partially cystic; genetic testing reveals compound heterozygous mutations in the IBA57 gene: R197W (c.589C>T, p.Arg197Trp, rs368114681) and P236A(c.706C>G, p.Pro236Ala, rs769063859); received physiotherapy and occupational therapy, but discontinued due to lack of progress; treated with baclofen previously and was discontinued due to lack of progress; medications: coenzyme Q10, levocarnitine; currently in special education; similarly affected sibling (not in repository)
Category分类：Fibroblast
ID编号:NTCC®-GM26035
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:9 YR
Gender性别:Male
Cell Type细胞类型: CYSTIC LEUKOENCEPHALOPATHY | IBA57, S. CEREVISIAE, HOMOLOG OF; IBA57
Affected State:Yes
Product:Fibroblast
Gene:IBA57
Mutations突变:P236A; c.706C>G; p.Pro236Ala R197W; c.589C>T; p.Arg197Trp
Ethnicity:Mexican
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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