Cellosaurus logo
expasy logo

Cellosaurus BIHi001-B-1 (CVCL_D6KX)

[Text][XML][JSON]
Cell line name BIHi001-B-1
Accession CVCL_D6KX
Resource Identification Initiative To cite this cell line use: BIHi001-B-1 (RRID:CVCL_D6KX)
Comments From: Berlin Institute of Health; Berlin; Germany.
Population: Caucasian.
Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
Cell type: Fibroblast of foreskin; CL=CL_1001608.
Sequence variations
  • Mutation; HGNC; HGNC:10923; SLC16A2; Simple_edited; p.Gly327Arg (c.979G>A) (p.Gly401Arg, c.1201G>A); ClinVar=VCV000159901; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38006677).
Disease Allan-Herndon-Dudley syndrome (NCIt: C118843)
Allan-Herndon-Dudley syndrome (ORDO: Orphanet_59)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YN70 (BIHi001-B)
Sex of cell Male
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=38006677; DOI=10.1016/j.scr.2023.103256
Katarzyna Anna Ludwik, Robert Opitz, Sabine Jyrch, Matthias Megges, January Weiner 3rd, Dieter Beule, Peter Kuhnen, Harald Stachelscheid;
Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.
Stem Cell Res. 73:103256-103256(2023)

Cross-references
Cell line databases/resources hPSCreg; BIHi001-B-1
Biological sample resources BioSamples; SAMEA114633136
Encyclopedic resources Wikidata; Q127380333
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3