Name：NTCC? NA23652 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23652
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: 5 YR
Gender性別: Female
Description描述: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 (WALKER-WARBURG SYNDROME INCLUDED) | CHROMOSOME DELETION
Remarks: Clinically affected; decreased alpha dystroglycan; diagnosed by muscle biopsy and muscle imaging (MRI); type II lissencephaly (predominant pachygyria-frontal>occipital); possible polymicrogyria; inferior vermis hypoplasia; small pons; inferior vermis hypoplasia; patchy white matter abnormalities in higher parietal white matter; small tectum; mental retardation; turned in bed without assistance at age 3 months; sat without assistance at age 6 months; walked indoors without assistance at age 2 years; ejection fraction > 60%; donor subject is a compound heterozygote: the paternal allele has a 74 kb deletion {chromosome 22q12.3: [32330175 (SNP rs2239746)]- [32403758 (SNP rs2267255)]} of the LARGE gene including coding exons; the maternal allele has a G>A transition at nucleotide 1525 in exon 13 (1525G>A) resulting in the substitution of lysine for glutamic acid at codon 509 [Glu509Lys (E509K)].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: LARGE
Disease疾病類型:
Mutations突變: DEL LARGE GLU509LYS
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