NTCC® NA22090 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22090

Name：NTCC® NA22090 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22090
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:
Gender性别: Male
Description描述: PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
Remarks: Clinically affected; presents with PMD-like symptoms; born after full term pregnancy with no complications to healthy, unrelated Ashkenazi Jewish parents; was irritable and "colicky" as an infant; never developed normal sleep patterns; did not develop motor milestones by age 3 months; subject was negative for storage and metabolic abnormalities; speech delay: non-verbal but able to understand and be receptive of language; severe visual impairment due to optic atrophy, but no abnormal eye movements; spasticity; dysphagia; severely exaggerated gag reflex; active bite reflex-often bit his own lower lip; severe reflux; severely underweight; vomited nearly daily, frequent GI illness; minimal pubertal development: onset of pubic hair, slight enlargement of penis, no facial hair and voice did not change; failure to thrive; reactive airway disease; died suddenly at age 17; Analysis of PCR-based automated fluorescent sequencing of the 5' untranslated region, the intron-exon junction, and the coding region of the GJA12 gene detected a heterozygous base change c.966G>C in the GJA12 gene that does not result in amino acid changes; no mutations in GJA12 that would result in amino acid changes were detected; no duplications or mutations of the PLP gene were detected using multiplex PCR amplification and PCR-based automated fluorescent sequencing; whole exome sequencing of DNA revealed no pathogenic mutations in PLP1, GJC2, AIMP1, HSPD1, FAM126A, TUBB4A, POLR3A, POLR3B, or ALC16A2; treatments included: H2 blockers, nebulized Albuterol, and Baclofen; deceased affected sister (GM22060, fibroblast).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
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Mutation description突变描述:
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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