Name：NTCC? NA20273 Fibroblast DNA
Category分類(lèi)：DNA
Cat#貨號(hào):NTCC?-Coriell NA20273
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:
Gender性別: Male
Description描述: GAUCHER DISEASE, TYPE II | GLUCOSIDASE, ACID BETA; GBA
Remarks: Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類(lèi)型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: GBA
Disease疾病類(lèi)型:
Mutations突變: RECOMBINANT (EXON 9)
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
Email：Biovector@163.com
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