GM21921MECP2 突变导致新生儿严重脑病 |甲基-CPG-结合蛋白2； MECP2 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® GM21921 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Unspecified Cell Line
MECP2 突变导致新生儿严重脑病 |甲基-CPG-结合蛋白2； MECP2细胞株
Description描述：Clinically affected; congenital encephalopathy; hypotonia; hypoventlation; seizures with abnormal EEG; apnea; gastroesophageal reflux with failure to thrive; tube fed; respiratory failure at 5 months of age; high narrow palate; myopathic hypotonic facies; died at 15.5 months from central respiratory failure due to pneumonia; skin biopsy used to make this culture was taken 2 days prior to death; donor subject was hemizygous for a microdeletion in exon 4 of the MECP2 gene (r.378_384delTCCCCAG) resulting in a frameshift that leads to a premature stop codon (p.I126fsX11)
Category分类：Fibroblast
ID编号:NTCC®-GM21921
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:15 MO
Gender性别:Male
Cell Type细胞类型: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:Fibroblast
Gene:MECP2
Mutations突变:378_384delTCCCCAG
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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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