Name細胞名稱：NTCC? GM21921 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Unspecified Cell Line
MECP2 突變導致新生兒嚴重腦病 |甲基-CPG-結合蛋白2； MECP2細胞株
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分類：Fibroblast
ID編號:NTCC?-GM21921
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: More than one race
Age年齡:15 MO
Gender性別:Male
Cell Type細胞類型: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:Fibroblast
Gene:MECP2
Mutations突變:378_384delTCCCCAG
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Dulbecco Modified Eagles Medium (high glucose) 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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