LVPEIi006-B-1

LVIP04-LC12-1-BE1

The cell line is not validated yet.

General

Cell Line

hPSCreg name LVPEIi006-B-1
Cite as:
LVPEIi006-B-1
Alternative name(s)
LVIP04-LC12-1-BE1
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 1st March 2025
Notes This is an heterozygous, mutation-corrected, isogenic iPSC line (LVPEIi006-B-1), with one mutation corrected allele and a parental mutant allele and was generated using an engineered en31FnCas9-based adenine base editor system. This isogenic line was clonally expanded beyond passage 20 and genotyped to confirm the desired base correction. It stably maintained its stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The correction of pathogenic mutation in one of the alleles has resulted in the partial restoration of normal RD3 mRNA splicing in mature retinal organoids.
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Provider

Generator L.V. Prasad Eye Institute (LVPEI)
Owner L.V. Prasad Eye Institute (LVPEI)
Distributors
Derivation country India

External Databases

BioSamples SAMEA117688009

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: not allowed
Commercial use: allowed
Subclone of

Donor Information

General Donor Information

Sex male
Ethnicity Asian, Indian (27 years)

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor/proband is clinically diagnosed with autosomal recessive LCA12 due to a splice disrupting, point mutation in the RD3 gene.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • LCA12
  • Leber congenital amaurosis 12
  • Leber congenital amaurosis caused by mutation in RD3
  • Leber congenital amaurosis type 12
  • RD3 Leber congenital amaurosis
  • amaurosis congenita of Leber, type 12
show more synonyms
Genetic variants
RD3 (target)
1q32.3
NM_001164688.2: c.296+1G>A
NP_001158160.1: p.Arg99*
Homozygous
Is the medical history available upon request? Yes
Is clinical information available? Yes

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA115158754

Ethics

Also have a look at the ethics information for the parental line LVPEIi006-B .
Is there an MTA available for the cell line? Yes
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? The gene editing construct, en31FnCas9-ABEmax8.17d, was obtained from the collaborator Dr. Debojyoti Chakraborty's lab at CSIR-IGIB, New Delhi, India. The RD3 mutation-specific CRISPR guide oligo was then cloned into the BbsI site, downstream of the U6 promoter.
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? Yes
Constraints for use or distribution For research use only

hIPSC Derivation

General

The source cell information can be found in the parental cell line LVPEIi006-B.
Passage number reprogrammed NA

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
RT-PCR

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

Selection criteria for clones Clones were seeded in low density and clonally expanded to get edited clone
Derived under xeno-free conditions
Yes
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Vitronectin
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
CO2 Concentration 5 %
Medium Essential 8™
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SOX2
Yes
KLF4
Yes
NANOG
Yes
hTERT
Yes
SSEA-4
Yes
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
GATA6
Yes
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
MSX2
Yes
ACTA2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
PAX6
Yes
hMAP2
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
Normal, 46, XY
Passage number: P20
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Synonyms
  • LCA12
  • Leber congenital amaurosis 12
  • Leber congenital amaurosis caused by mutation in RD3
  • Leber congenital amaurosis type 12
  • RD3 Leber congenital amaurosis
  • amaurosis congenita of Leber, type 12
show more synonyms
Genetic modifications
RD3 (target)
Isogenic modification
1q32
NM_001164688.2: c.296+1 G>A
NP_898882: p. Arg99Ter
Heterozygous
Heterozygous mutation correction using en31FnCas9 Adenine Base Editor, with c. [296+1 G>A] and c. [296+1 A>G] base changes in each of the alleles in LVPEIi006-B-1
Repaired