Name：NTCC? NA10641 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA10641
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: 4 YR
Gender性別: Female
Description描述: SJOGREN-LARSSON SYNDROME
Remarks: Congenital ichthyosis; mental retardation; spastic quadriplegia; fibroblasts have 5% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as the substrate; donor subject is homozygous for a 3 bp deletion at nucleotide 941 with a 21 bp insertion at the intron 6/exon 7 junction of the ALDH3A2 gene (941_943delCCC + ins21nt) leading to amino acid substitutions [Ala314Gly (A314G)] and [Pro315Ala (P315A)] accompanied by the addition of six amino acids, Ala-Lys-Ser-Thr-Val-Gly between the pair
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ALDH3A2
Disease疾病類型:
Mutations突變: 3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA
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