GM27934

GM27934 iPSC from Blood

Description:

NESCAV SYNDROME; NESCAVS
KINESIN FAMILY MEMBER 1A; KIF1A

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

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

More than one race

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[20]

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data Tab. 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

KIF1A

Chromosomal Location

2q37.3

Allelic Variant 1

E253K; NESCAV Syndrome

Identified Mutation

c.757G>A

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

2 YR

Sex

Male

Age at Diagnosis(If not a control)

5 MO

Racial Category

More than one race

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HETEROZYGOUS MUTATION IN KIF1A (NM_004321.7, HG19): C.757G>A (E253K)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Hypertonia
Seizures

Additional Information:

DELAYED MYELINATION

Optical and Audiological Symptoms

Additional Information:

CORTICAL VISUAL IMPAIRMENT

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Medications

Family History

External Links

Gene Cards

KIF1A

Gene Ontology

GO:0003774 motor activity

GO:0005524 ATP binding

GO:0005875 microtubule associated complex

GO:0008089 anterograde axon cargo transport

NCBI Gene

Gene ID:547

NCBI GTR

601255 KINESIN FAMILY MEMBER 1A; KIF1A

614255 NESCAV SYNDROME; NESCAVS

OMIM

601255 KINESIN FAMILY MEMBER 1A; KIF1A

614255 NESCAV SYNDROME; NESCAVS

Culture Protocols

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

mTeSR1

Serum

none

Substrate

Matrigel

Supplement

Pricing

Commercial/For-profit:

$1,789.00USD

Academic/Non-profit/Government:

$1,110.00USD

Description:

NESCAV SYNDROME; NESCAVS KINESIN FAMILY MEMBER 1A; KIF1A

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

NESCAV SYNDROME; NESCAVS
KINESIN FAMILY MEMBER 1A; KIF1A