Name：NTCC? NA12212 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA12212
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 3 YR
Gender性別: Male
Description描述: PYRUVATE DECARBOXYLASE DEFICIENCY | PYRUVATE DEHYDROGENASE COMPLEX E1-ALPHA POLYPEPTIDE 1; PDHA1
Remarks: 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)]
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: PDHA1
Disease疾病類型:
Mutations突變: ARG234GLY
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
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
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net