Name：NTCC? NA05258 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA05258
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 34 YR
Gender性別: Female
Description描述: WILSON DISEASE | ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
Remarks: Diagnosed at age 24 as asymptomatic with "emotional instability"; low serum ceruloplasmin & high hepatic copper level; maintained on d-penicillamine; father had Wilson's disease; parents are first cousins; see GM05257 Fibroblast; donor subject is a compound heterozygote: one allele has an A>C change at nucleotide 3191 in the ATP7B gene (c.3191A>C) resulting in the substitution of alanine for glutamic acid at codon 1064 [Glu1064Ala (E1064A)] and the second allele has a C>A change at nucleotide 3207 (c.3207C>A) resulting in the substitution of glutamine for histidine at codon 1069 [His1069Gln (H1069Q)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: ATP7B
Disease疾病類型:
Mutations突變: GLU1064ALA HIS1069GLN
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
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