NTCC® NA24585 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA24585

Name：NTCC® NA24585 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24585
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 3 YR
Gender性别: Female
Description描述: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5 | CHROMOSOME DELETION
Remarks: Clinically affected; dysmorphic features include: relatively prominent frontal area on head, small nasal bridge, diminutive nose, mild sandal gap in the right lower foot; developmental delay; motor delay; not able to walk independently at 18 months; heterozygous de novo 713 kb deletion in the MBD5 (methyl-CpG binding domain protein 5) gene confirmed by chromosomal microarray, real-time PCR, and FISH; the aberrant region on the long arm of chromosome 2 contains 3 known genes (an isoform of MBD5, ORC4L and ACVR2A); subject receives physical and speech therapy; lymphoblast is GM23711; unaffected mother is GM24586 fibroblast/GM23712 lymphoblast and unaffected father is GM24587 fibroblast/GM23713 lymphoblast.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: MBD5
Disease疾病类型:
Mutations突变: 713kb DEL at 2q22.3-q23.1
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net