NTCC® NA23417 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23417

Name：NTCC® NA23417 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23417
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: 9 YR
Gender性别: Male
Description描述: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM | TITIN; TTN | GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
Remarks: Clinically affected; Centronuclear myopathy and connexin 26 hearing loss; born full term via normal spontaneous delivery; birth weight 6lb 9 oz; apgar scores: 9 at 1 min and 9 at 5 min; failed initial newborn hearing screening but passed repeat test several weeks later; hyporeflexia and hypotonia onset at 2 months of age; head lag and developmental delay noted at 5 months due to severe weakness of neck muscles; weakness of arms, legs; scoliosis; physical exam at 11 years 6 months: subject noted to be ambulant but had difficulty lifting head or torso against gravity and fatigued easily, had decreased vital capacity, facial weakness, and absent deep tendon reflexes; developmental milestones achieved and maintained through age 11: sat at 9 months, held head up and turned in bed at 12 months, stood at 14 months, walked indoors at 16 months, and walked outdoors at 18 months; climbed stairs with a handrail at 24 months; ran (feet leaving ground) at 5 years; Muscle biopsy at age 14 months: revealed marked increase in the number of fibers with internal and central nuclei, fiber size variation, Type I fiber predominance, and increase in connective or endomysial tissue; electron micrograph of muscle biopsy revealed: disintegrated sarcomeres showing disrupted I- and A-band regions; indirect immunofluorescence analysis of the muscle biopsy indicated normal sarcomere labeling with the titin N-terminal and A-I junction antibodies (titin integrated into sarcomeres and structure intact up to A-I junction), but there was complete loss at the C-terminal of titin which contains a binding site for calpain 3 (CAPN3); immunostaining for CAPN3 indicated a loss of the CAPN3 binding region on the mutant titin proteins; reduced immunostaining for AldoA receptors indicated that the mutations lie in the titin N2-line region; whole exome sequencing was performed (UCSC hg19); subject is a compound heterozygote for the following mutations in the TTN gene; mutation 1 (paternal) in exon 168: p.Val10952Leu (GTT>CTT), c.32854G>C; mutation 2 (maternal) intron 191: c.37112-1G>A, IVS191-1 G>A; audiology evaluation at age 5: mild sensorineural hearing loss on the left side; repeat audiological evaluations every six months revealed progressive hearing loss, L>R; audiological exam at age 8 years: mild sensorineural hearing loss 250-1500 Hz rising within normal limits through 8000 Hz in right ear and a mild sloping to a moderately severe sensorineural hearing loss 250-2000 Hz rising to within normal limits through 8000 Hz in left ear, middle ear muscle reflexes absent to contralateral stimulation 500-2000 Hz, stimulating either ear, distortion-product otoacoustic emissions were consistent with a low to mid frequency hearing loss; word recognition excellent bilaterally; excellent speech perception at average conversation levels (50 dB); Connexin 26 GJB2 gene sequencing revealed subject is heterozygous for 342kb deletion (35delG) and heterozygous for an M34T change, which was reported to be sufficient to result in significant hearing loss when inherited in combination with 35delG in 2007 at the time of testing; subject uses Widex Inteo SD-9M post auricular hearing aids; subject uses breathing support at night or when ill; carrier mother has mild subclinical cardiac and skeletal myopathy, no other family history of centronuclear myopathy or connexin 26 hearing loss; subject fibroblast cell line is GM25936; carrier mother is GM25951 (lymphoblast), unaffected carrier father is GM25948 (lymphoblast), and maternal grandmother is GM25993 (lymphoblast); subject is 314-1 in Neurology (2013) 81:1205-14, PMID:23975875.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TTN
Disease疾病类型:
Mutations突变: 32854 G>C 37112-1G>A (IVS191-1G>A)
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
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