NTCC® NA25330 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25330

Name：NTCC® NA25330 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25330
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: 10 YR
Gender性别: Male
Description描述: CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 | MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5; MHS5 | CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
Remarks: Clinically affected; onset of symptoms at 12 months old; diagnosed at 10 years of age; ataxia; cerebral palsy; hypotonia; hand tremors; developmental delay; myopathic facial expression; whole exome sequence analysis reveals the subject is compound heterozygous for a p.Q208X variant (p.Gln208Stop, c.622 C>T) in exon 4 and a p.G310G variant (p.Gly310Gly, c.930 C>T) in exon 6 of the NGLY1 gene; subject also found to be heterozygous for a c.4060 A>T mutation (Thr1354Ser) in the CACNA1S gene 锟?(malignant hyperthermia susceptibility; reported as ACMG incidental finding). Test was performed using genomic DNA, the whole exome sequence was mapped and analyzed in comparison with the published human genome build UCSC hg19 reference sequence; father (not in repository) is heterozygous for the Q208X mutation in the NGLY1 gene; mother (not in repository) is heterozygous for the G310G mutation in the NGLY1 gene and heterozygous for the Thr1354Ser mutation in the CACNA1S gene; sister with similar phenotype and the same genetic test results as this subject is GM25331 (lymphoblast) and GM25343 (fibroblast); same subject as GM25344 (fibroblast) and GM27381 (stem cell).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CACNA1S NGLY1
Disease疾病类型:
Mutations突变: GLN208TER GLY310GLY THR1354SER
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