Name：NTCC? NA09790 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09790
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 5 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
Remarks: Clinically affected; diagnosis confirmed at 26 months; alacrima; lack of axon flare on histamine test; miosis of the pupil following instillation of pilocarpine; lack of lingual fungiform papillae; absent deep tendon reflexes; hyperhidrosis; gastroesophageal reflux; less then 5th percentile for height and weight; no skin mottling; developmental milestones mildly delayed; no tongue thrusting; pneumonia; mild esotropia; affected first cousins are GM05105, GM05106; father is GM09749; mother is GM09788; 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
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: IKBKAP
Disease疾病類型:
Mutations突變: c.2204+6T>C (IVS20+6T>C)
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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