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GM28925 iPSC from Blood

Description:

MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
MAF BZIP TRANSCRIPTION FACTOR; MAFB

Affected:

Yes

Sex:

Female

Age:

3 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 3/4 Jewish
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 Reprogrammed from parental line GM28026 (PBMC). 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 19
 
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 MAFB
Chromosomal Location 20q12
Allelic Variant 1 p.Pro71Arg; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
Identified Mutation c.212C>G (p.P71R)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 3 YR
Sex Female
Age of Onset(If not a control) 18 MO
Age at Diagnosis(If not a control) 2 YR
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  WHOLE EXOME SEQUENCING REVEALED A LIKELY PATHOGENIC DE NOVO VARIANT IN EXON 1 OF THE MAFB GENE (NM_005461.4), CHR:POSITION 20:39317279, C.212C>G (P.P71R). READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19
Zygosity:  Heterozygous
Other variants:  COPY NUMBER VARIANT (CNV) ANALYSIS WAS PERFORMED; THERE WAS NO INDICATION OF A 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:  18 MONTHS
Age at Diagnosis:  2 YEARS, 10 MONTHS
In Utero History Information
Birth History Information
Dysmorphic Features
Additional Information:  SHORT STATURE, EPIDERMOID CYSTO OF THE TONGUE, SKIN LAXITY, EXHIBITS CRANIOFACIAL FEATURES OF DISORDER
Neurological Symptoms
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Additional Information:  SKELETAL ABNORMALITIES, SMALL TALUS BONE, C5-C6 SEGMENTATION ANOMALY, HYPOPLASTIC THUMBS, INFLAMMED SWOLLEN ANKLES
Developmental Milestones
Delayed gross motor skills
Additional Information:  DID NOT WALK UNTIL 2 YEARS OF AGE; CANNOT CLIMB STEPS, HOP, JUMP OR PUT ANY PRESSURE ON WRISTS
Gastrointestinal Symptoms
Additional Information:  ANTERIOR ANUS
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Musculoskeletal and Developmental Testing:  X-RAYS SHOW IRREULAR-SHAPED AND MISSING CARPAL AND TARSAL BONE
Treatments and Assistive Devices
Orthotics
Additional Testing:  ADDITIONAL ASSISTIVE DEVICES: BRACES SURGERIES: EAR TUBE REMOVAL, ADENOID REMOVAL, CYST REMOVAL UNDER TONGUE
Medications
 ANTI-INFLAMMATORY MEDS, METHOTREXATE, ACTEMRA, LISINOPRIL (QBRELIS)
Family History
 THIS PROBAND'S PARENTS (NOT IN THE REPOSITORY) DO NOT HARBOR THE P.P71R VARIANT IN THE MAFB GENE.
Remarks Reprogrammed from parental line GM28026 (PBMC). 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.

External Links

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Gene Cards MAFB
NCBI GTR 166300 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
608968 MAF bZIP TRANSCRIPTION FACTOR B; MAFB
OMIM 166300 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
608968 MAF bZIP TRANSCRIPTION FACTOR B; MAFB
Omim Description IDIOPATHIC MULTICENTRIC OSTEOLYSIS; IMO
  OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY

Culture Protocols

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Passage Frozen 19
Split Ratio 1:8
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
Commercial/For-profit:
$1,789.00USD
Academic/Non-profit/Government:
$1,110.00USD
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How to Order
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