NTCC® NA19988 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA19988

Name：NTCC® NA19988 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA19988
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: 36 YR
Gender性别: Female
Description描述: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED) | EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
Remarks: Clinically affected; patient #944 in Fogli et al, Am J Hum Genet 72:1544-1550, 2003; bilateral cataracts in first week of life were excised with implantation of intraocular lens; walked at age 12 mo; difficulties in school; mild developmental delay; mild thoracic dextroscoliosis; bilateral pes cavus; menarche at age 14 yr; amenorrhea at age 26 yr; atrophied ovaries; spasticity; gait instability at age 25 yr; walker used at age 30 yr; hypophonia with mild dysarthria observed; tongue weakness and hyperreflexia; sphincter disfunction at age 26 yr; optic atrophy; visual loss at age 28 yr;glaucoma with arcuate scotoma of left eye; IQ=65 at age 30 yr; MRI showed generalized volume loss of cortex and white matter; microcephaly; visual motor difficulties; poor executive function; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 512 of the EIF2B2 gene (512C>T), resulting in a ser171-to-phe mutation [Ser171Phe (S171F)] and the second allele has a 6 bp deletion (ATGGCT)/2 bp insertion (TG) at nucleotide 607, resulting in a frameshift at met203
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: EIF2B2
Disease疾病类型:
Mutations突变: 6-BP DEL/2-BP INS, NT607 SER171PHE
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
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