Name：NTCC? NA00483 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA00483
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: 37 YR
Gender性別: Female
Description描述: HYPERCHOLESTEROLEMIA, FAMILIAL; FHC | LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Remarks: Affected mother of a clinically diagnosed receptor negative child (GM00488); elevated plasma cholesterol; donor subject has one allele which has a G>A (TGT>TAT) transition at nucleotide 2000 in exon 14 of the LDLR gene (2000G>A) resulting in the substitution of tyrosine for cysteine at codon 646 [Cys646Tyr (C646Y)]- for methods, please refer to publication by Bodamer et al. (PMID 12406975); see same subject B-lymphocyte (GM01460).
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: LDLR
Disease疾病類型:
Mutations突變: CYS646TYR
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