GM24232

GM24232 LCL from B-Lymphocyte

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Korean

Ethnicity

Not Hispanic/Latino

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at birth; motor functions achieved and currently maintained: held head up without assistance at 4 months; turned in bed without assistance at 4 months; sat without assistance at 8 months; stood without assistance at 14 months; walked with assistance at 22 months; maximum motor function ever achieved: walking outdoors without assistance at 22 months; cannot climb stairs with handrail; cannot run; motor skills are relatively normal, but needs supervision to prevent falling when walking; diagnosis confirmed by muscle biopsy; abnormal creatine kinase; mildly underdeveloped brain by MRI/CT scan; sequencing revealed that donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 856-3 in intron 6 of the COL6A2 gene (IVS6-3C>G) resulting in the disruption of the normal splice acceptor site between intron 6 and exon 7; the second allele has an A>T transversion at nucleotide 2386 in exon 26 resulting in a premature stop at codon 796 [Lys796Ter (K796X)]; same as GM23308 (Fibro); unaffected father is GM23306 (Lymph) and GM23307 (Fibro); unaffected mother is GM23305 (Lymph).