Name：NTCC? NA04663 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04663
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 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 | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; diagnosed within the first year of life; born at 36 weeks and small for gestational age (BW=1.69 kg); hypotonia and poor suck in neonatal period; questionable seizure in neonatal period; absent fungiform papillae on tongue; absent deep tendon reflexes; skin blotching; hyperhidrosis; alacrima; sluggish corneal reflexes; no flare response to histamine test; good linear growth; pneumonia; air swallowing; developmental delay; tongue thrusting; corneal ulcers; acrocyanosis; weak, hoarse cry; searching nystagmus when drinking; high palate; small umbilical hernia; at 25 months, BUN normal for age (5); poor coordination; constipation; vomits mucous and bile after meals; poor head control; extraneous movements and alternating low and high tone periods; no breath holding; hospitalized for diarrhea on at least one occasion; father is GM04664; mother is GM04665; 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:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
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:

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