General

Cell Line
hPSCreg name	ICGi036-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	ICGi036-A-1
Alternative name(s)	FH 1.3.1S_130S5, 130S5
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
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 Databases
BioSamples	SAMEA117381858
General Information
* Is the cell line readily obtainable for third parties?	Yes Research use: allowed Clinical use: not allowed Commercial use: not allowed
Subclone of	ICGi036-A

Donor Information

General Donor Information
Sex	female
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Hyperlipoproteinemia, Type IIa 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 show less synonyms Genetic variants LDLR (target) Chromosome location 19p13.2 Nucleotide sequence variant in HGVS format NM_000527.4:c.530C>T Protein sequence variant in HGVS format NP_000518.1:p.Ser177Leu LDLR (target) Chromosome location 19p13.2 Nucleotide sequence variant in HGVS format NM_000527.4:c.1054T>C Protein sequence variant in HGVS format 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?

hIPSC 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

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 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

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

Genotyping

Karyotyping (Cell Line)

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications

Hyperlipoproteinemia, Type IIa OMIM 143890 Synonyms FH Hyperlipidemia Type IIa Type IIa Hyperlipidemia Familial Hypercholesterolemia Hyperlipoproteinemia, Type IIa show more synonyms show less synonyms Genetic modifications LDLR (target) Type of modification Isogenic modification Chromosome location 19p13.2 Nucleotide sequence variant in HGVS format NM_000527.5(LDLR):c.530C>T Protein sequence variant in HGVS format NP_000518.1:p.S177L (SER156LEU) Is the modification homozygous or heterozygous? Heterozygous How has the target locus been modified? Repaired