NTCC® NA05105 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05105

Name：NTCC® NA05105 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05105
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: 10 YR
Gender性别: Male
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
Remarks: Clinically affected; absent axon flare; scoliosis; no cyclic vomiting; alacrima; absent fungiform papillae; absent deep tendon reflexes; 25th percentile for weight; drools profusely due to lax lower jaw and decreased swallowing of saliva; moderate restrictive lung disease with poor coordination; sensory impairment greater in left leg and foot compared to the right; joint position abnormal in left foot; slightly impaired cerebellar function; nocturnal enuresis; poor speech and handwriting difficulties; no corneal problems; mild Horner's syndrome; weak jaw and temporalis muscles; weak neck and trapezius muscles; hypertensive when supine; only identified one of four odors; 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; affected brother died at age 19; affected sister is GM05106; father is GM05107; mother is GM05108; unaffected siblings are GM05109, GM05110, GM05111; affected paternal cousin is GM09790.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: IKBKAP
Disease疾病类型:
Mutations突变: c.2204+6T>C (IVS20+6T>C)
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