Name：NTCC? NA13591 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA13591
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物種來源:
Age年齡: 32 YR
Gender性別: Female
Description描述: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
Remarks: Mild symptoms; donor subject is a compound heterozygote for mutations in the CFTR gene: allele one carries a deletion of codon 508 (CTT) in exon 10 which leads to deletion of phenylalanine-508 [PHE508DEL] and allele two carries a G-to-A transition at nucleotide 482 (482G>A) in exon 4, resulting in a change of arginine to histidine [ARG117HIS (R117H)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 5T/9T; donor subject is homozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: CFTR HFE MTHFR
Disease疾病類型:
Mutations突變: 677C>T ARG117HIS HIS63ASP PHE508DEL
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
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