Name：NTCC? NA20328 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20328
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: 2 MO
Gender性別: Male
Description描述: LEPRECHAUNISM | INSULIN RECEPTOR; INSR
Remarks: Clinically affected; birth weight 1,590 g at 42 weeks gestation (<5th percentile); hirsutism; acanthosis nigricans; peripheral edema; thickened lips; prominent nipples; disproportionately large genitalia; heart murmur; developmental delay; failure to thrive; severe constipation; recurrent upper respiratory tract infections; died at 26 months; autopsy revealed: severe pulmonary hypertension, moderate concentric bilateral hypertrophy of heart, focal areas of proliferation of bile ducts, and hepatocytes contained PAS positive granules; fasting hypoglycemia and postprandial hyperglycemia with elevated levels of circulating insulin (1,200 uU/ml) noted in neonatal period; specific binding of insulin (to fibroblasts) = 0.02 +/- 0.02 (fmol/mg cell protein) with normal range being 1.01 - 2.20; donor subject is a compound heterozygote: one allele has an in-frame deletion of three nucleotides resulting in the deletion of codon 281 in exon 3 of the INSR gene [del c.1159-1161, N281] and a second allele has a G>A transition in the first nucleotide of the splice-donor junction in intron 13 of the INSR gene resulting in an in-frame deletion of amino acids 859-867 [IVS 13+1, G>A].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: INSR
Disease疾病類型:
Mutations突變: 3-BP DEL (N281) IVS13+1,G>A
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