NTCC® NA09296 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA09296

Name：NTCC® NA09296 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09296
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: 21 YR
Gender性别: Female
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; alacrima; no corneal problems; color blindness; strabismus; mild left exotropia; no depth perception; recurrent Staphylococcal pneumonias; cyanotic nailbeds; chronic interstitial fibrosis noted on chext x-ray; kyphoscoliosis; epidural hematoma with surgical removal and subsequent seizure disorder; vomiting crises during premenstrual week but vomiting resolved with initiation of Ovral 21; postural hypotension; recurrent otitis media during infancy; absent right corneal reflex; almost no appreciation of "sharp" on face; vibration sense slighlty decreased in all extremities; complete absence of pain sensation in right leg; azotemia; evidence of progressive renal insufficiency; only one of four odors identified; affected brother is GM09297; unaffected siblings are GM09298, GM09302; mother is GM09764; 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
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