Name：NTCC? NA09789 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09789
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: 8 YR
Gender性別: Male
Description描述: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | HIRSCHSPRUNG DISEASE | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
Remarks: Clinically affected; Hirschsprung's disease diagnosed at 3 days of life; poor feeding and poor suck in neonatal period; poor oral coordination; breath holding; facial expressivity somewhat diminished; decreased swallowing of saliva and drooling; skin blotching; alacrima; no corneal problems; no nystagmus; slight alternating exotropia; high arched palate; no fungiform papillae on tongue; no scoliosis or kyphosis; no cyanosis; absent deep tendon reflexes; spotty loss of pain sensation; slight hypotonia; below 3rd percentile for height and weight; no vomiting; recurrent pneumonia; febrile seizure; affected sister is GM09792; father is GM09791; 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