NTCC® NA03813 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03813

Name：NTCC® NA03813 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03813
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: Male
Description描述: SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
Remarks: Clinically affected; born after full term uncomplicated pregnancy; rolled over at 6 months old; began babbling at 9 months old; by 12 months old, there was marked muscle atrophy and weakness; absent deep tendon reflexes; constipation; donor subject has 3 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043); PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene; similarly affected brother (not in repository); mother is GM03814 (Fibro)/GM24474 (iPSC); father is GM03815 (Fibro); see GM23240 (iPSC - lentiviral) and GM24468 (iPSC - episomal); previously classified as SMA I, but data such as onset features and SMN2 dosage in the proband supported re-classification to SMA II.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SMN1
Disease疾病类型:
Mutations突变: EX7-8DEL
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