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GM27270 iPSC from Fibroblast

Description:

PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4

Affected:

Yes

Sex:

Male

Age:

11 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 Skin
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Fibroblast
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Spanish; German; Irish; Italian
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,XY[32].arr(1-22)x2,(X,Y)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; symptom onset at birth; diagnosed at 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26037 (lymphoblast) and GM26038 (fibroblast). 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 parental cell line was recovered, reprogrammed to an induced pluripotent stem cell line, 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 TCF4
Chromosomal Location 18q21.2
Allelic Variant 1 Substitution; Pitt-Hopkins Syndrome
Identified Mutation ARG174TER; c.520C>T; nonsense mutation in TCF4 gene (c.520C>T, p.Arg174X)

Phenotypic Data

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Remarks Clinically affected; symptom onset at birth; diagnosed at 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26037 (lymphoblast) and GM26038 (fibroblast). 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 TCF4
Gene Ontology GO:0003677 DNA binding
GO:0003702 RNA polymerase II transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription from Pol II promoter
NCBI Gene Gene ID:6925
NCBI GTR 602272 TRANSCRIPTION FACTOR 4; TCF4
610954 PITT-HOPKINS SYNDROME; PTHS
OMIM 602272 TRANSCRIPTION FACTOR 4; TCF4
610954 PITT-HOPKINS SYNDROME; PTHS

Culture Protocols

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Passage Frozen 17
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent
Serum 20% Knock-out Serum Replacement Not inactivated
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10ng/ml
Pricing
Commercial/For-profit:
$1,789.00USD
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
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  • GM26037 - B-Lymphocyte
  • GM26038 - Fibroblast
  • GM26159 - B-Lymphocyte
Same Family
  • 3317
Miscellaneous
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