Name：NTCC? NA05106 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05106
Size/Quantity數(shù)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: 12 YR
Gender性別: Female
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; absent axon flare; no cyclic vomiting; absent lingual fungiform papillae; absent deep tendon reflexes; alacrima; kyphosis; renal complications; below 5th percentile for for height; at 5th percentile for weight; nocturnal enuresis; no corneal problems; diminished corneal reflexes; strabismus; labile blood pressure; difficulty chewing; air swallowing; poor oral coordination; chronic rhinorrhea; azotemia; 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; one affected brother died at age 19; affected brother is GM05105; father is GM05107; mother is GM05108; unaffected siblings are GM05109, GM05110, GM05111; affected paternal cousin is GM09790.
Alternate IDs其他編號:
Cell Type細胞類型: 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:

Supplier供應商:
BioVector質(zhì)粒載體菌株細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