Name：NTCC? NA25330 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25330
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 10 YR
Gender性別: 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 錕?(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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CACNA1S NGLY1
Disease疾病類型:
Mutations突變: GLN208TER GLY310GLY THR1354SER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net