Name細胞名稱：NTCC? GM22129 BARTH SYNDROME; BTHS | TAFAZZIN; TAZ B-Lymphocyte Cell Line
巴斯綜合癥； BTHS |塔法津；塔茲細胞株
Description描述：Clinically affected; no family history; onset of dilated cardiomyopathy at birth; neutropenia; growth retardation; skeletal muscle weakness; several infections; cholesterol at >1 year of age was 95 mg/dl (LDL 41); normal carnitine; 3-methylglutaconate in plasma is 2594 nmol/l and in urine is 106; muscle biopsy showed abnormal mitochondria; donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>A
Category分類：B-Lymphocyte
ID編號:NTCC?-GM22129
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: White
Age年齡:11 YR
Gender性別:Male
Cell Type細胞類型: BARTH SYNDROME; BTHS | TAFAZZIN; TAZ
Affected State:Yes
Product:LCL
Gene:TAZ
Mutations突變:IVS1+5G>A
Ethnicity:ITALIAN/IRISH/ENGLISH
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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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