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GM27933 iPSC from Blood

Description:

NESCAV SYNDROME; NESCAVS
KINESIN FAMILY MEMBER 1A; KIF1A

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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 White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XX[20]
Species Homo sapiens
Common Name Human
Remarks See Phenotypic Data Tab. Isogenic control line for this iPSC is GM28967. The 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

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Passage Frozen 17
 
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 P305L; NESCAV Syndrome
Identified Mutation c.914C>T

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 5 YR
Sex Female
Age of Onset(If not a control) 1 WK
Age at Diagnosis(If not a control) 2 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
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.914C>T (P305L)
Zygosity:  Heterozygous
Age of Symptom Onset and Age at Diagnosis
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Seizures
Additional Information:  CEREBELLAR ATROPHY; DELAYED MYELINATION; LEG SPASTICITY
Optical and Audiological Symptoms
Additional Information:  CORTICAL VISION 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

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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

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Passage Frozen 17
Split Ratio 1:8
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM28967 - Stem cell
Same Family
  • NIGMS00051
Miscellaneous
  • DNA on Demand
  • Custom Services

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