NTCC® NA04994 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04994

Name：NTCC® NA04994 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04994
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 60 YR
Gender性别: Male
Description描述: PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE | ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
Remarks: Clinically affected; similarly affected sib; involvement includes eyes, skin, & gastrointestinal tract; neither parent showed signs of PXE; donor subject is a compound heterozygote: allele 1 carries a C>T transition at nucleotide 3421 (3421C>T) in exon 24 of the ABCC6 gene resulting in an Arg to Ter substitution at codon 1141 [Arg1141Ter (R1141X)]; allele 2 carries a C>T transition at nucleotide 3490 (3490C>T) in exon 24 resulting in an Arg to Ter substitution at codon 1164 [Arg1164Ter (R1164X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ABCC6
Disease疾病类型:
Mutations突变: ARG1141TER ARG1164TER
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net