ICGi036-A-1

FH 1.3.1S_130S5, 130S5

General

iPSC Line

hPSCreg name ICGi036-A-1
Cite as:
ICGi036-A-1
Alternative name(s)
FH 1.3.1S_130S5, 130S5
iPSC line type Human induced pluripotent stem cell (hiPSC)
Similar iPSC lines
ICGi036-A
(FH 1.3.1S)
Donor's gene variants:
LDLR, LDLR
Donor diseases:
Hyperlipoproteinemia, Type IIa
ICGi037-A
(FH 3.2.8T)
Donor's gene variants:
LDLR, LDLR
Donor diseases:
Hyperlipoproteinemia, Type IIa
ICGi038-A
(FH 5.1.2Sh)
Donor's gene variants:
LDLR, LDLR
Donor diseases:
Hyperlipoproteinemia, Type IIa
HPCHi001-A
Donor's gene variants:
LDLR
Donor diseases:
familial hypercholesterolemia
Last update 24th November 2024
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Provider

Generator Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG)

External iPSC Databases

BioSamples SAMEA117381858

General iPSC Information

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

iPSC Genetic Modification

Disease/phenotype related modifications
OMIM 143890
Synonyms
  • FH
  • Hyperlipidemia Type IIa
  • Type IIa Hyperlipidemia
  • Familial Hypercholesterolemia
  • Hyperlipoproteinemia, Type IIa
show more synonyms
Genetic modifications
LDLR (target)
Isogenic modification
19p13.2
NM_000527.5(LDLR):c.530C>T
NP_000518.1:p.S177L (SER156LEU)
Heterozygous
Repaired

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • FH
  • Hyperlipidemia Type IIa
  • Type IIa Hyperlipidemia
  • Familial Hypercholesterolemia
  • Hyperlipoproteinemia, Type IIa
show more synonyms
Genetic variants
LDLR (target)
19p13.2
NM_000527.4:c.530C>T
NP_000518.1:p.Ser177Leu
LDLR (target)
19p13.2
NM_000527.4:c.1054T>C
NP_000518.1:p.Cys352Arg

External Databases (Donor)

BioSamples SAMEA10986020

Ethics

Also have a look at the ethics information for the parental line ICGi036-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 ICGi036-A.

Reprogramming method

Vector type Non-integrating
Vector Episomal
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

iPSC Culture Conditions

Medium Other medium:
Base medium: DMEM/F12
Main protein source: Knock-out serum replacement
Serum concentration: 15 %
Has Rock inhibitor (Y27632) been used at passage previously with this iPSC line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this iPSC line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this iPSC line?
Yes

iPSC Characterisation

No characterisation data could be found for this subclone. Please open parental cell line ICGi036-A .

Genotyping

Karyotyping (iPSC Line)

Other Genotyping (iPSC Line)