GM29277

Overview

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

Subject Type

parent/child

Ethnicity

Not Hispanic/Latino

Ethnicity

Ashkenazi Jewish, Italian, and British

Country of Origin

USA

Family Member

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

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

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

MAOA

Chromosomal Location

Xp11.3

Allelic Variant 1

deletion; BRUNNER SYNDROME; BRNRS

Identified Mutation

COMPLETE DELETION; MONOAMINE OXIDASE A DEFICIENCY

Gene

MAOB

Chromosomal Location

Xp11.3

Allelic Variant 1

deletion; CHROMOSOME Xp11.3 DELETION SYNDROME

Identified Mutation

COMPLETE DELETION

Gene

PMP22

Chromosomal Location

17p11.2

Allelic Variant 1

deletion; NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES

Identified Mutation

COMPLETE DELETION

External Links

NCBI GTR

300578 CHROMOSOME Xp11.3 DELETION SYNDROME

OMIM

300578 CHROMOSOME Xp11.3 DELETION SYNDROME

Culture Protocols

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

mTeSR1

Serum

none Not inactivated

Substrate

Matrigel

Supplement

Description:

CHROMOSOME XP11.3 DELETION SYNDROME
MONOAMINE OXIDASE A; MAOA
MONOAMINE OXIDASE B; MAOB

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

Description:

CHROMOSOME XP11.3 DELETION SYNDROME MONOAMINE OXIDASE A; MAOA MONOAMINE OXIDASE B; MAOB

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

CHROMOSOME XP11.3 DELETION SYNDROME
MONOAMINE OXIDASE A; MAOA
MONOAMINE OXIDASE B; MAOB