GM00649IA 型枫糖浆尿病 (MSUD) |支链酮酸脱氢酶E1，α多肽； BCKDHA 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM00649 MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA Cell Line
IA 型枫糖浆尿病 (MSUD) |支链酮酸脱氢酶E1，α多肽； BCKDHA细胞株
Description描述：Elevated urine leu, ileu, and val; delayed psychomotor develop; abnormal EEG; deficient BCKD (BCKAD) complex activity; posititve for cross-reactive material for BCKD (BCKAD) complex subunits E1A, E2, and E3; E1A (BCKDE1A or BCKDHA) gene shows 8-bp deletion in exon 7/Y438N (formerly designated Y393N) mutations
Category分类：Fibroblast
ID编号:NTCC®-GM00649
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:9 MO
Gender性别:Male
Cell Type细胞类型: MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Affected State:Yes
Product:Fibroblast
Gene:BCKDHA
Mutations突变:8-BP DEL, NT887-894, FS255TER TYR438ASN (FORMERLY TYR393ASN)
Ethnicity:
Family:18
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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