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CRMi003-A-6

Registration Summary:

IOPD c.1496G>A

The cell line is not validated yet.
CRMi003-A-6

General

iPSC Line
hPSCreg name CRMi003-A-6
Cite as:
CRMi003-A-6
Alternative name(s)
IOPD c.1496G>A
iPSC line type Human induced pluripotent stem cell (hiPSC)
Similar iPSC lines No similar lines found.
Last update 6th July 2026
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Provider
Generator University College London (UCL)

External iPSC Databases
BioSamples SAMEA122977604

General iPSC Information
* Is the cell line readily obtainable for third parties?
Yes
Cell line can only be used in: pending MTA
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed
Subclone of

iPSC Genetic Modification

Disease/phenotype related modifications
Glycogen storage disease due to acid maltase deficiency, infantile onset
Infantile Pompe Disease (IOPD), also known as glycogen storage disorder type II (GSDII) or acid maltase deficiency (AMD) is a rare, severe, and multisystem inherited metabolic disorder caused by a complete or near-complete deficiency of the acid alpha-glucosidase (GAA) enzyme. This enzyme deficiency causes toxic glycogen buildup in the heart and muscles, leading to fatal heart and respiratory failure if left untreated
Synonyms
  • GSD due to acid maltase deficiency, infantile onset
  • GSD type 2, infantile onset
  • GSD type II, infantile onset
  • Pompe disease, infantile onset
  • alpha-1,4-glucosidase acid deficiency, infantile onset
  • glycogen storage disease type 2, infantile onset
  • glycogen storage disease type II, infantile onset
  • glycogenosis due to acid maltase deficiency, infantile onset
  • glycogenosis type 2, infantile onset
  • glycogenosis type II, infantile onset
show more synonyms
Genetic modifications
GAA (target)
Isogenic modification
17q25.3
Homozygous
We inserted nonsense mutation c.1496G>A in the GAA gene via CRISPR/Cas9-editing
Mutated

Donor Information

General Donor Information
Sex male
Ethnicity unknown

Phenotype and Disease related information (Donor)
Diseases No disease was diagnosed.
Family history unknown
Is the medical history available upon request? no
Is clinical information available? no

Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?
No

External Databases (Donor)
BioSamples SAMEA7776418

Ethics

Also have a look at the ethics information for the parental line CRMi003-A .
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

iPSC Derivation

General
The source cell information can be found in the parental cell line CRMi003-A.

Reprogramming method
Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming
Type of used vector free reprogramming factor(s)
None

Other
Selection criteria for clones Colony morphology
Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

iPSC Culture Conditions

Medium mTeSR™ 1

iPSC Characterisation

Analysis of undifferentiated iPSCs
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
SOX2
Yes
–
–
POU5F1 (OCT-4)
Yes
–
NANOG
Yes
–
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
GATA4
Yes
Morphology
IF Endoderm_GATA4.pdf
Immunofluorescence
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
𝛼-SMA
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
TUBB3
Yes

Microbiology / Virus Screening
Mycoplasma Negative

Genotyping

Karyotyping (iPSC Line)
Has the iPSC line karyotype been analysed?
No

Other Genotyping (iPSC Line)