NTCC® NA16193 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16193

Name：NTCC® NA16193 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16193
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:
Gender性别: Male
Description描述: NIEMANN-PICK DISEASE, TYPE B | SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 | GLUCOSIDASE, ACID BETA; GBA
Remarks: Clinically affected; organomegaly; lung involvement; neurologically normal; Type B; acid sphingomyelinase enzyme levels < 2% of control; the donor subject is a compound heterozygote; one allele carries a G-to-T change at nucleotide 1487 (in a CpG dinucleotide) of the SPMD1 gene which results in an arginine-to-leucine amino acid substitution in residue 496 [Arg496Leu (R496L)]; the second allele carries a 3-base deletion of nucleotides 1821-1823 which removes an arginine residue from position 608 (Arg608DEL); donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GBA SMPD1
Disease疾病类型:
Mutations突变: ARG496LEU ARG608DEL ASN370SER
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