NTCC® NA21921 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21921

Name：NTCC® NA21921 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21921
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 15 MO
Gender性别: Male
Description描述: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: 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)
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: MECP2
Disease疾病类型:
Mutations突变: 378_384delTCCCCAG
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net