Name：NTCC? NA20949 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20949
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: 21 YR
Gender性別: Female
Description描述: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic | ALG6, S. CEREVISIAE, HOMOLOG OF
Remarks: Clinically affected; decreased fetal movements during pregnancy; birth weight = 3,500 g; spells of cyanosis and apnea during feeding in first 2 weeks of life; radiological evaluation showed bilateral reduction deformities of distal phalanges of digits II to IV in both hands and absence of the mid and distal phalanges on digits II to IV in the feet; right great toe has reduction of proximal phalanx and absence of distal phalanx; sat at 15 months, cruised at 3 years, walked independently at 5 years, first words at 5 years; 2 episodes of generalized epilepsy at age 20 months with normal EEG; grand mal seizures at ages 9 and 12 years; menarche at 15 years; irregular menses treated with medroxyprogesterone but followed by development of hirsutism; switched to triphasic contraceptive but excessive weight gain continued and male pattern frontal balding developed; pronounced virilization; deep vein thrombosis of left superficial femoral and deep popliteal vein developed at age 19 years; at 21 years, papilledema, as a result of pseudotumor cerebri, with normal venous MRI angiogram was noted; abdominal CT showed large ovaries with suspicion of multiple cysts; severe mental retardation; broad-based walk with kyphotic posture; normal muscle tone and deep tendon reflexes; dysmetria and intention tremor; distal phalangeal hypoplasia with small tapering nails, pointed distal digits, short distal phalanges and absent middle phalanx on the left second digit; normal brain MRI; abnormal coagulation factors: prothrombin time 11.4 sec (9.2-11.8), partial thromboplastin time 40.1 sec (20.6-32.9), antithrombin III 28 U/dl (88-131), Factor XI total 12.2 U/dl (52-120), protein C 24 U/dl (70-140), and protein S 42.2 U/dl (70-134); low LDL cholesterol of 44 mg/dl (62-136) but normal HDL cholesterol of 47 mg/dl (37-68); diagnosis confirmed using carbohydrate deficient transferrin analysis by electrospray ionization mass spectrometry; normal activities of phosphomannomutase, phosphomannose isomerase; donor subject is a compound heterozygote: one allele has a three base deletion in exon 9 of the ALG6 gene [897-899delAAT] that causes the loss of I299 and a second allele has an intronic mutation in intron 7 of the ALG6 gene [IVS7+2T>G] that disrupts splicing and causes skipping of exons 7-12 plus 22 bases of exon 13.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ALG6
Disease疾病類型:
Mutations突變: 897_899delAAT IVS7+2T>G
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