NTCC® NA14039 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14039

Name：NTCC® NA14039 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14039
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: 19 YR
Gender性别: Male
Description描述: GLYCOGEN STORAGE DISEASE II
Remarks: Clinically affected; adult onset; severe muscle weakness & wasting; respiratory muscle insufficiency; muscle biopsy showed acid maltase deficiency; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 569 of the GAA gene (c.569G>A) resulting in the substitution of histidine for arginine at codon 190 [Arg190His (R190H)]; the second allele has a deletion extending from an 8 nucleotide long AGGGGCCG sequence starting from nucleotide 102 downstream of exon 17 to exactly the same sequence starting at nucleotide 32 downstream of exon 18 (c.2481+102_2646+31del; p.Gly828_Asn882del); cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GAA
Disease疾病类型:
Mutations突变: ARG190HIS EX18DEL
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