GM29523

GM29523 iPSC from Fibroblast

Description:

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

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

Asiatic Indian

Ethnicity

Indian

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[20]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at birth; diagnosed by neurologist and geneticist at 3 months of age; deceased at 8 months of age; dysmorphic features; large mouth; seizures; pontocerebellar hypoplasia; dysgenesis of the corpus callosum; relative microcephaly; severe hypotonia; pelviectasis kidney; developmental delay; abnormal movements; eyes: not fixing or following, complains of vision issues or eye injury; complains of tremors; possible normal microarray (1-22)x2,(XY),x1; whole exome sequencing revealed donor was homozygous for a c.1434_c.1434+1delGGinsAA pathogenic variant in the PIGN gene; donor was also compound heterozygous for the following variants of unknown significance in the RYR3 gene: c.4562G>C (p.W1521S) and c.12389A>C (p.E4130A); management includes: physical therapy and occupational therapy; whole exome sequencing also revealed that parents are heterozygous for c.1434_c.1434+1delGGinsAA and are asymptomatic carriers (not in repository); consanguinity denied. 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

Passage Frozen

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

PIGN

Chromosomal Location

18q21.33

Allelic Variant 1

; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Identified Mutation

c.1434_c.1434+1delGGinsAA

Gene

PIGN

Chromosomal Location

18q21.33

Allelic Variant 2

; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Identified Mutation

c.1434_c.1434+1delGGinsAA

Phenotypic Data

Remarks

External Links

Gene Cards

PIGN

NCBI Gene

Gene ID:23556

NCBI GTR

606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

OMIM

606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

Culture Protocols

Passage Frozen

Split Ratio

1:5

Temperature

37 C

Percent CO2

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

Description:

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN