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BIHi045-A-2

Registration Summary:
BIHi045-A-2

General

Cell Line
hPSCreg name BIHi045-A-2
Cite as:
BIHi045-A-2
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 24th April 2025
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Provider
Generator Berlin Institute of Health (BIH)

External Databases
BioSamples SAMEA118138897

General 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

Donor Information

General Donor Information
Sex male

Phenotype and Disease related information (Donor)
Diseases A disease was diagnosed.
Allan-Herndon-Dudley syndrome
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Monocarboxylate transporter 8 deficiency
  • X-linked intellectual disability-hypotonia syndrome
  • MCT8 deficiency
  • AHDS
show more synonyms
Genetic variants
SLC16A2 (target)
Xq13.2
NM_006517.3:c.(1201G>A)
NM_006517.3(NP_006508.1):p.G401R
hemizygous

External Databases (Donor)
BioSamples SAMEA118002726

Ethics

Also have a look at the ethics information for the parental line BIHi045-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 BIHi045-A.

Reprogramming method

Vector free reprogramming

Other
Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Medium mTeSR™ 1

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SSEA-4
Yes
TRA 1-60
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation

Genotyping

Karyotyping (Cell Line)

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Allan-Herndon-Dudley Syndrome
Synonyms
  • MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency
  • Monocarboxylate Transporter 8 Deficiency
  • Allan-Herndon-Dudley Syndrome
Genetic modifications
SLC16A2 (target)
Isogenic modification
Xq13.2
Homozygous
The BIHi045-A-2 cell line was generated by transfection of recombinant Cas9 protein and synthetic gRNAs into the parental hiPSC line, BIHi045-A, derived from AHDS patient carrying SLC16A2:G401R. The correction of the SLC16A2-G401R mutation (c.1201G>A, cDNA.1367G>A, g.103513G>A) was introduced and 4 silent mutations to disrupt the seed sequence (c.1185T>C, c.1186A>C, c.1188A>C, c.1191T>C).
Repaired