Name：NTCC? NA11316 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11316
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: 1 DA
Gender性別: Male
Description描述: ACHONDROPLASIA; ACH | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
Remarks: Mother and father are also affected; small thorax and extremely short limbs noted at birth; large head; large anterior fontanel; short hands with typical severe trident appearance; severe shortening of ribs and long bones; see GM11317 Fibroblast; donor subject is homozygous for a G>A transition at nucleotide 1138 of the FGFR3 gene resulting in the substitution of arginine for glycine at codon 380 [Gly380Arg (G380R)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: FGFR3
Disease疾病類型:
Mutations突變: GLY380ARG, 1138G>A
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