Name：NTCC? NA10309 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA10309
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 4 MO
Gender性別: Male
Description描述: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS
Remarks: Metabolic acidosis; organic acidemia; deficient fibroblast pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase activity; biotin responsive; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1648 of the HLCS gene (c.1648G>A) resulting in the substitution of methionine for valine at codon 550 [Val550Met (V550M)]and a second allele has a C>T change at nucleotide 1980 (c.1980C>T) resulting in a premature termination at codon 565 [Arg565Ter (R565X)]
Alternate IDs其他編號:
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: HLCS
Disease疾病類型:
Mutations突變: ARG565TER VAL550MET
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net