Name：NTCC? NA09826 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA09826
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: 34 YR
Gender性別: Male
Description描述: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; recurrent respiratory infections; pneumonia; blue lips; no nailbed clubbing; gastroesophageal reflux; seizures; syncopal episodes; errors in joint position in both feet; decreased vibratory sense; vomiting following vigorous coughing; postural hypotension; suggestions of poor peripheral circulation; alacrima; no acute corneal problems; optic atrophy; severe myopia; color blindness; stable BUN and creatinine; kyphoscoliosis; affected brothers are GM02341, GM02342; unaffected siblings are GM09827, and GM09828; mother is GM09829; father is GM09830; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for a silent polymorphism in the ASPA gene: 693C>T [Tyr231Tyr (Y231Y)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: ASPA IKBKAP
Disease疾病類型:
Mutations突變: c.2204+6T>C (IVS20+6T>C) TYR231TYR
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
http://www.biovector.net