GM12212 PYRUVATE DECARBOXYLASE DEFICIENCY | PYRUVATE DEHYDROGENASE COMPLEX E1-ALPHA POLYPEPTIDE 1; PDHA1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM12212 PYRUVATE DECARBOXYLASE DEFICIENCY | PYRUVATE DEHYDROGENASE COMPLEX E1-ALPHA POLYPEPTIDE 1; PDHA1 Cell Line
丙酮酸脱羧酶缺乏症 |丙酮酸脱氢酶复合物E1-α多肽1； PDHA1细胞株
Description描述：PDC activity <10% of controls in lymphocytes but normal in cultured skin fibroblasts; expired at age 3; abnormal neuromuscular development and lactic acidosis; E1 component deficient in liver, skeletal muscle, and heart; similarly affected brother; passage 3 at CCR; donor subject has a hemizygous point mutation at nucleotide 832 in exon 7 of the PDHA1 gene resulting in the substitution of glycine for arginine at codon 234 [Arg234Gly (R234G)]
Category分类：Fibroblast
ID编号:NTCC®-GM12212
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:
Age年龄:3 YR
Gender性别:Male
Cell Type细胞类型: PYRUVATE DECARBOXYLASE DEFICIENCY | PYRUVATE DEHYDROGENASE COMPLEX E1-ALPHA POLYPEPTIDE 1; PDHA1
Affected State:Yes
Product:Fibroblast
Gene:PDHA1
Mutations突变:ARG234GLY
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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