GM26069

GM26069 LCL from B-Lymphocyte

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-1; COL6A1

Affected:

Yes

Sex:

Male

Age:

9 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Australian

Country of Origin

AUSTRALIA

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; diagnosis confirmed via creatine kinase level, muscle biopsy, and electromyography; hypermobility; scoliosis; tortocolis; trigger thumb; low muscle tone; various contractures; motor functions achieved and maintained without assistance: holding head up, sitting, and walking; motor function achieved but no longer maintained without assistance: running; initial analysis of skeletal muscle biopsy revealed no obvious morphologic abnormalities, but further studies showed apparent loss of collagen VI from the sarcolemma of the myofibres and condensation in the interstitium; RT-PCR and sequencing from fibroblast mRNA, and genomic PCR and sequencing using fibroblast DNA was used to screen for COL6A1, COL6A2, and COL6A3; a de novo heterozygous genomic deletion in COL6A1 that removes exons 5-9 and leads to an in-frame deletion of 90 amino acids was identified; sequencing was not performed at Coriell, but was confirmed via external lab and submitted with sample; unaffected mother is GM26070 and unaffected father is GM26071. Same donor as GM29216 iPSC.