hPSCreg®
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MHHi001-A-17

Registration Summary:

PHX_CRISPR_JR_DIS13

MHHi001-A-17

General

Cell Line
hPSCreg name MHHi001-A-17
Cite as:
MHHi001-A-17
Alternative name(s)
PHX_CRISPR_JR_DIS13
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 11th July 2025
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Provider
Generator Department of Functional Genomics - Human Molecular Genetics (UMGW)

External Databases
BioSamples SAMEA115741867

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

Donor Information

General Donor Information
Sex female
Ethnicity Caucasian

Phenotype and Disease related information (Donor)
Diseases No disease was diagnosed.
Family history N/A
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 SAMEA4564585

Ethics

Also have a look at the ethics information for the parental line MHHi001-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 MHHi001-A.

Reprogramming method
Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
No
Methods used
RT-PCR
Files and images showing reprogramming vector expressed or silenced
Vector_MHHi001-A-17.PNG

Vector free reprogramming

Other
Selection criteria for clones Sanger sequencing for mutations in target region Frameshift analysed using online tools TIDE (https://tide.nki.nl/) and indigo (https://www.gear-genomics.com/indigo/)
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Mechanically
CO2 Concentration 5 %
Medium mTeSR™ 1
Supplements
Penicillin-Streptomycin, 10.000 U/ml Penicillin, 10 mg/ml Pan Biotech 1 %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
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
NANOG
Yes
–
–
SOX2
Yes
–
–
POU5F1 (OCT-4)
Yes
–
–
TRA 1-60
Yes
–
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
SOX17
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
TBXT
Yes
SMA
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
PAX6
Yes
Tuj1
Yes

Microbiology / Virus Screening
Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?
Yes
46,XX
MHHi001-A-A17.png
Passage number: 15
Karyotyping method: low coverage whole genome sequencing on NextSeq 550

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Phenotype MIM Nr 619595: Heterozygous mutations in this location are associated with the following symptoms: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA).
Genetic modifications
SRCAP (target)
Isogenic modification
Cytogenetic band: 16p11.2
NM_006662.3:c.9306_9307insGG
NM_006662.3:p.(Leu3104Glyfs*4)
Heterozygous
Mutation was introduced by CRISPR/Cas9 RNP Sanger Sequencing was done on the target region. InDel length and frequency was estimated with TIDE (http://shinyapps.datacurators.nl/tide/). InDel length and allelic deconvolution was performed using Indigo (https://www.gear-genomics.com/indigo/, Gear Genomics). Both tools agree on the InDel length leading to truncating mutation on one allele.
Mutated