Name：NTCC? NA25268 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA25268
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 16 YR
Gender性別: Female
Description描述: MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 | SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4
Remarks: Clinically affected; diagnosed at 16 years of age; hypertrophic cardiomyopathy; progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance and persistent adrenergic activation; Sanger sequencing revealed homozygous frameshift null mutation of the SLC25A4 gene (c.523delC, p.Q175RfsX38); this mutation removes over a third of the C terminus of the adenosine nucleotide translocator-1,ANT1 polypeptide, rendering the subject as ANT1 null (ANT1 -/-). ANT1 is the predominant isoform in heart and skeletal muscle [refer to publication by Strauss et al, PMID: 23401503]; positive family history.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: SLC25A4
Disease疾病類型:
Mutations突變: c.523delC; p.Q175RfsX38
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
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