Name：NTCC? NA03066 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA03066
Size/Quantity數(shù)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: 23 FW
Gender性別: Female
Description描述: MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Remarks: Deficient fibroblast beta-galactosidase and N-acetylglucosaminylphosphotransferase activity; similarly affected brother; GlcNAc-Phosphotransferase activity = 1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is a compound heterozygote: one allele has a 1-bp deletion in exon 8 of the GNPTAB gene [1012delA] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [T284fsX288] and a second allele has a 1-bp deletion in exon 12 of the GNPTAB gene [1744delC] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [C528fsX546].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: GNPTAB
Disease疾病類型:
Mutations突變: 1012delA 1744delC
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(zhì)粒載體菌株細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