Name：NTCC? NA11859 LCL DNA
Category分類(lèi)：DNA
Cat#貨號(hào):NTCC?-Coriell NA11859
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 57 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Clinically affected; mild pulmonary disease with pancreatic exocrine sufficiency and elevated sweat chloride; donor subject is homozygous for G-to-A substitution at nucleotide 2657+5 in intron 14b which results in an mRNA splicing defect: c.2657+5G>A (g. 117242922); alternate nomenclature is c.2789+5G>A) analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T; SMN1: no deletion detected for exon 7 and exon 8; SMN2: homozygous deletion of exon 7 and exon 8.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類(lèi)型: LCL
Source組織來(lái)源: LCL
Gene: CFTR
Disease疾病類(lèi)型:
Mutations突變: c.2657+5 G>A
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)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(huà)：400-800-2947
Email：Biovector@163.com
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