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GM23418 LCL from B-Lymphocyte

Description:

CHARCOT-MARIE-TOOTH DISEASE; INHERITANCE UNKNOWN

Affected:

Yes

Sex:

Female

Age:

55 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; symptom onset at age 38 years; diagnosis at age 39 years; numbness in arms and hands; loss of dexterity; mild hammertoes; high arched feet; wide, unsteady steppage gait; down going toes bilaterally; mild foot drop; tripping, especially with right foot; decreased pinprick sensation below the knees bilaterally; absent vibratory sensation in the toes bilaterally; decreased temperature sensation in the legs distally; mild weakness of foot dorsiflexion bilaterally; subject also has a history of: degenerative spinal cord compression; carpal tunnel syndrome; hyperthyroidism; depression and psoriatic arthritis; CMT diagnosed by nerve conduction velocity studies conducted at MDA clinic: evidence of sensorimotor polyneuropathy with predominantly demyelinating features and secondary axonal changes consistent with CMT; MRI of spine revealed evidence of myelomalacia at the C5-6 level; C6 cord compression; assistive devices include hand splints for carpel tunnel (worn inconsistently); surgeries include carpal tunnel release, shunt, cervical fusion, cervical laminectomy, lumbar drain, anterior cervical tissue graft; medications include Plaquenil, Methotrexate Sodium, Hydrocodone, Aleve/Excedrin, Flexeril, Sulfasalazine, Levothyroid, and Enbrel; father and sibling are also reported to be affected with CMT.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; symptom onset at age 38 years; diagnosis at age 39 years; numbness in arms and hands; loss of dexterity; mild hammertoes; high arched feet; wide, unsteady steppage gait; down going toes bilaterally; mild foot drop; tripping, especially with right foot; decreased pinprick sensation below the knees bilaterally; absent vibratory sensation in the toes bilaterally; decreased temperature sensation in the legs distally; mild weakness of foot dorsiflexion bilaterally; subject also has a history of: degenerative spinal cord compression; carpal tunnel syndrome; hyperthyroidism; depression and psoriatic arthritis; CMT diagnosed by nerve conduction velocity studies conducted at MDA clinic: evidence of sensorimotor polyneuropathy with predominantly demyelinating features and secondary axonal changes consistent with CMT; MRI of spine revealed evidence of myelomalacia at the C5-6 level; C6 cord compression; assistive devices include hand splints for carpel tunnel (worn inconsistently); surgeries include carpal tunnel release, shunt, cervical fusion, cervical laminectomy, lumbar drain, anterior cervical tissue graft; medications include Plaquenil, Methotrexate Sodium, Hydrocodone, Aleve/Excedrin, Flexeril, Sulfasalazine, Levothyroid, and Enbrel; father and sibling are also reported to be affected with CMT.

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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