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GM29378 iPSC from Blood

Description:

PRADER-WILLI SYNDROME; PWS
SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN

Affected:

Yes

Sex:

Female

Age:

10 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
Ethnicity Ashkenazi Jewish
Country of Origin USA
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 Clinically affected; 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

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Passage Frozen 12
 
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 SNRPN
Chromosomal Location 15q12
Allelic Variant 1 ;
Identified Mutation c.73C>T(p.Arg25Ter)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 10 YR
Sex Female
Age at Diagnosis(If not a control) 10 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:  CLINICAL EXOME SEQUENCE ANALYSIS IDENTIFIED A LIKELY PATHOGENIC AUTOSOMAL DOMINANT DE NOVO VARIANT IN THE SNRPN GENE (NM_003097.4): C.73C>T (P.ARG25TER) IN EXON 5; CHR:POSITION 15:25220574; READS WERE ALIGNED AND ASSEMBLED TO REFERENCE SEQUENCES BASED ON NCBI REFSEQ TRANSCRIPTS AND HUMAN GENOME BUILD GRCH37/UCSC HG19
Zygosity:  Other
Other variants:  NO PATHOGENIC MTDNA VARIANTS WERE IDENTIFIED; CNV ANALYSIS WAS PERFORMED - THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF 3 OR MORE EXONS IN THE DATA FOR THIS PROBAND
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  BIRTH
Age at Diagnosis:  DIAGNOSED AT 10 YEARS OF AGE BY A GENETICIST
In Utero History Information
Birth History Information
Caesarian section
Additional Information:  C-SECTION, LOW TRANSVERSE; APGARS - ONE: 8, TEN: 9
Dysmorphic Features
Additional Information:  MICRO AND RETROGNATHIA
Neurological Symptoms
Hypotonia
Sleep abnormalities
Additional Information:  SKIN PICKING; LOW TONE
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Abnormal weight for age
Gastrointestinal Symptoms
Additional Information:  FOOD PERSEVERATIONS
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Sleep disturbances
Attention deficit hyperactivity disorder
Additional Information
Testing Performed
Uncategorized Testing:  BASED ON CDC (GIRLS 2-20 YEARS): BMI 94%, WEIGHT 91%, HEIGHT/STATURE 59%
Treatments and Assistive Devices
Medications
 SOMATROPIN (NUTROPIN)
Family History
 BASED ON VARIANT SEGREGATION ANALYSIS BY WHOLE EXOME SEQUENCING (WES) RESULTS, THIS PROBAND'S PARENTS (NOT IN REPOSITORY) DO NOT HARBOR THE P.R25X VARIANT IN THE SNRPN GENE.

External Links

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Gene Cards SNRPN
NCBI Gene Gene ID:5821
Gene ID:6638
NCBI GTR 176270 PRADER-WILLI SYNDROME; PWS
182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
OMIM 176270 PRADER-WILLI SYNDROME; PWS
182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
Omim Description PRADER-LABHART-WILLI SYNDROME
  PRADER-WILLI SYNDROME CHROMOSOME REGION; PWCR
  PRADER-WILLI SYNDROME; PWS

Culture Protocols

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Passage Frozen 12
Split Ratio 1:6
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
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How to Order
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