GM29367

GM29367 Fibroblast

Description:

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
SPASTIN; SPAST

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Norwegian, Italian, Lithuanian, English

Country of Origin

CANADA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

See "Phenotypic Data" Tab. Heterozygous for the pathogenic variant. c.1413+1G>A, in the SPAST gene. The variant affects the canonical +1 splice site of exon 11 and is likely to affect splicing. Unaffected mother is GM29368 (fibro)

Characterizations

PDL at Freeze

5.7

Passage Frozen

Gene

SPAST

Chromosomal Location

2p22.3

Allelic Variant 1

; SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

Identified Mutation

c.1413+1G>A

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

6 YR

Sex

Male

Age of Onset(If not a control)

2 YR

Age at Diagnosis(If not a control)

6 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

CANADA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

SPAST, C.1413+1G>A, EXON 11

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

2 YEARS

Age at Diagnosis:

6 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

STIFF LEG MUSCLES

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Uncategorized Symptoms:

INTOEING (TOES POINT IN)

Testing Performed

Treatments and Assistive Devices

Physical therapy

Additional Testing:

MASSAGE THERAPY

Medications

Family History

Remarks

External Links

Gene Cards

SPAST

Gene Ontology

GO:0005524 ATP binding

GO:0005634 nucleus

NCBI Gene

Gene ID:6683

NCBI GTR

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

604277 SPASTIN; SPAST

OMIM

182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

604277 SPASTIN; SPAST

Omim Description

FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

Culture Protocols

Cumulative PDL at Freeze

5.7

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 SPASTIN; SPAST

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
SPASTIN; SPAST