General

Cell Line
hPSCreg name	BIHi045-A-2
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	BIHi045-A-2
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	21st February 2025
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Provider
Generator	Berlin Institute of Health (BIH)
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	BIHi045-A

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 show less synonyms Genetic variants SLC16A2 (target) Chromosome location Xq13.2 Nucleotide sequence variant in HGVS format NM_006517.3:c.(1201G>A) Protein sequence variant in HGVS format NM_006517.3(NP_006508.1):p.G401R Is the variant homozygous or heterozygous? hemizygous

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

Characterisation

No characterisation data could be found for this subclone. Please open parental cell line BIHi045-A .

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) Type of modification Isogenic modification Chromosome location Xq13.2