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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)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
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
.
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)
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.
No data is available
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
No data is available
Passage Frozen
12
Split Ratio
1:6
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
mTeSR1
Serum
none
Substrate
Matrigel
Supplement
-
Pricing
Commercial/For-profit:
$1,704.00
USD
Academic/Non-profit/Government:
$1,037.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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