GM04368
LCL from B-Lymphocyte
Description:
KEARNS-SAYRE SYNDROME; KSS
COMPLEX I, SUBUNIT ND4; MTND4
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of the Mitochondrial Genome |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Gene |
MTND4 |
Chromosomal Location |
NA |
Allelic Variant 1 |
516003.0001; LEBER OPTIC ATROPHY |
Identified Mutation |
MTND4*LHON11778A; The allele changes the highly conserved arginine at amino acid 340 to a histidine (R340H). This allele accounts for 50% of LHON cases among Caucasians and over 90% of the cases in Asians. |
Remarks |
Clinically affected with Kearns-Sayre syndrome; frequent episodes of dehydration between ages 2-3; poor growth started about age 2-3; small stature diagnosed at age 5; by age 11 there was pigmentary retinopathy, absent deep tendon reflexes, 2/4 weakness of the proximal muscles of the shoulders and hips, weakness of the trapezius group, and ocular muscle weakness; dry and course skin and hair; mild bilateral high frequency sensorineural hearing loss; growth hormone deficiency; hypopituitarism; ptosis; nystagmus; strabismus; occasional diplopia; no heart block; lymphoblasts from the donor subject (collected at age 12) underwent mitochondrial DNA mutation analysis: no large deletion was identified in the lymphoblastoid cell line but a mutation commonly seen in subjects with Leber’s Hereditary Optic Neuropathy was identified; donor subject was found to carry a G>A transition at nucleotide 11778 in the MTND4 gene of the mitochondrial genome [11778G>A] resulting in a substitution of histidine for arginine at codon 340 [Arg340His(R340H)]. |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
20% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|