NTCC® NA04408 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA04408

Name：NTCC® NA04408 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04408
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: 4 YR
Gender性别: Male
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #87; stunted growth; minimal freckling over malar area; normal intelligence; normal sister chromatid exchange in lymphoblast culture; as resistant to killing by ethyl methanesulphonate as control sample; high level of DNA ligase I activity, similar to that of controls; donor subject is a compound heterozygote: one allele has a 6-bp deletion/7-bp insertion [2281_2286delins7] at nucleotide 2,281 of the open reading frame of the RECQL3 gene that results in a frameshift and a stop codon and a second allele has 1-bp deletion at nucleotide 3233 [3233delT] of the RECQL3 gene resulting in a frameshift and premature termination; same donor as GM03498 fibroblast.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: RECQL3
Disease疾病类型:
Mutations突变: 3233delT 6-BP DEL/7-BP INS
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