GM00612 MAPLE SYRUP URINE DISEASE (MSUD), TYPE II | DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00612 MAPLE SYRUP URINE DISEASE (MSUD), TYPE II | DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT Cell Line
枫糖浆尿病 (MSUD)，II 型 |二氢脂酰胺支链转糖酶；二苯并噻唑细胞株
Description描述：Less than 2% of normal BCKAD activity; absence of cross-reactive material for BCKAD complex subunit E2, positive for E1A, E1B, and E3; donor subject is a compound heterozygote: one allele has a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 [Glu163Ter (E163X)] and the second allele has a 2 bp (AT) deletion in exon 2, causing a frameshift downstream of residue (-26) in the mitochondrial targeting presequence
Category分类：Fibroblast
ID编号:NTCC®-GM00612
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: White
Age年龄:2 MO
Gender性别:Female
Cell Type细胞类型: MAPLE SYRUP URINE DISEASE (MSUD), TYPE II | DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
Affected State:Yes
Product:Fibroblast
Gene:DBT
Mutations突变:2-BP DEL,AT GLU163TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
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
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