Name：NTCC? NA11423 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11423
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: 16 WK
Gender性別: Male
Description描述: PROTEASE INHIBITOR 1; PI
Remarks: Portions of liver taken at time of liver biopsy were used to make this fibroblast culture; hepatic insufficiency of perinatal onset; enzyme studies done on donor tissue; Pi type ZZ in serum; both parents are MZ; parents are GM11424 and 11425 Lymphoid; donor subject is homozygous for the Z allele (ZZ), which results from a G>A transition at nucleotide 9989 in exon 5 of the SERPINA1 gene [9989G>A] resulting in a substitution of lysine for glutamic acid at codon 342 [Glu342Lys (E342K)].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: PI
Disease疾病類型:
Mutations突變: GLU342LYS ON M1A
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
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