GM29372

GM29372 iPSC from Blood

Description:

SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1

Affected:

Yes

Sex:

Female

Age:

47 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample
Muscular Dystrophies
CMD Specific

Protocols

Protocol PDF

Biopsy Source

Blood

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Blood

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Jewish, South African

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; maximum and current motor function is running with both feet leaving the ground and climbing at least 4 stairs with handrail; homozygous genetic variant found on exon 5 of SEPN1 gene c.713dupA resulting in a frameshift mutation and premature protein termination (p.Asn238LysfsStop63); BiPAP used most/all nights for less than 12 hours; has one affected 27 year old niece who is not in the repository. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

Passage Frozen

Induced Pluripotent Stem Cell

The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.

Gene

SEPN1

Chromosomal Location

1p36-p35

Allelic Variant 1

606210.0006; RIGID SPINE MUSCULAR DYSTROPHY 1

Identified Mutation

713dupA (c.713_714Ins); 1-bp insertion in the SEPN1 gene that was found in compound heterozygous state in patients with multiminicore disease (602771) by Ferreiro et al. (2002)