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Cellosaurus (CVCL_D0R2)

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Accession 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


Qiu-Hong Wang, Li-Ying Liu, Yang-Yang Wang, Wen He, Jie Wang, Jing Wang, Li-Ping Zou;
Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy.
Stem Cell Res. 73:103243-103243(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