Name：NTCC? NA16192 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16192
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: 1 MO
Gender性別: Male
Description描述: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED) | FUKUTIN; FKTN
Remarks: Clinically affected; foreskin; type II lissencephaly; congenital myotonic dystrophy; hydrocephalus indicated in utero by MRI; no aqueductal stenosis by post-natal MRI/CT; vermis hypoplasia; absent septum pellucidum; CPK = 2,200 u/ml; retinal exam showed vitreous hemorrhage but no pigmentary retinopathy; hypertonia; karyotype is 46,XY.ish 17(LIS1x2,RARAx2); donor is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 385 in exon 5 of the FKTN gene (c.385delA) resulting in a frameshift and creation of a stop at codon 129 (I129fsX1); the second allele has a C>A transversion at nucleotide 1176 in exon 10 (c.1176C>A) resulting in a stop at codon 392 [Tyr392Ter (Y392X)]
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: FKTN
Disease疾病類型:
Mutations突變: 385delA TYR392TER
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