GM20415钼辅因子缺乏症 皮肤，未特指的成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20415 MOLYBDENUM COFACTOR DEFICIENCY Skin, Unspecified Cell Line
钼辅助因子缺乏症细胞株
Description描述：Clinically affected; diagnosed in neonatal period; myoclonic seizures developed at age 3 months; occasional myoclonus; global developmental delays; primitive reflexes including stepping gait and exaggerated startle response; fencing posture; normal eye exam; plagiocephaly; undescended testicle on left; at age 5 1/2 months height was 67 cm (75th percentile), weight was 6.6 kg (15th percentile), head circumference was 40.5 cm (30-40th percentile) which has dropped from 60th percentile; at age 6 months there was head lag and very poor head control, no rolling, no purposeful grabbing movements, no visual focusing on objects, no coordination of visual stimuli with purposeful movements, and no response to sound or light stimuli; reflexes 3+ for all extremities and symmetric at age 6 months; EEG showed generalized spikes but no hypsarrhythmia; no sulfite oxidase activity detectable by enzyme determination; S-sulfocysteine assay showed 1598 micromol/g creatinine (normal <24 micromol/g creatinine); urine oxypurines: creatinine = 2.3 mmol/L, uric = 0.830 mmol/mol Cr (normal range 0.33-2), hypoxanthine = 0.121 mmol/mol Cr (normal range 0.01-0.11), xanthine = 0.951 mmol/mol Cr (normal range 0.01-0.09), oxipurinol = 0.000 mmol/mol Cr (normal range 0-0), and AICAR = 0.000 mmol/mol Cr (normal range 0-0).
Category分类：Fibroblast
ID编号:NTCC®-GM20415
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: More than one race
Age年龄:4 MO
Gender性别:Male
Cell Type细胞类型: MOLYBDENUM COFACTOR DEFICIENCY
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:CAUCASIAN/OTHER
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
NTCC典型培养物保藏中心
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