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Cellosaurus HPS1090 (CVCL_UP33)

[Text version]
Cell line name HPS1090
Synonyms BRCi012-A; CiRA-j-0042-A
Accession CVCL_UP33
Resource Identification Initiative To cite this cell line use: HPS1090 (RRID:CVCL_UP33)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 61; ABCD1; Simple; p.Arg401Trp (c.1201C>T); ClinVar=VCV000488393; Zygosity=Hemizygous (PubMed=33901816).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A3SS ! HPS1091
CVCL_A3ST ! HPS1092
CVCL_A3SU ! HPS1093
CVCL_A3SV ! HPS1094
CVCL_A3SW ! HPS1095
Sex of cell Male
Age at sampling <10Y
Category Induced pluripotent stem cell
Publications

PubMed=33901816; DOI=10.1016/j.scr.2021.102337
Kuramochi Y., Awaya T., Matsuo-Takasaki M., Takami M., An Y., Li J.-Y., Hemmi Y., Wakabayashi T., Arai Y., Inoue J., Noguchi M., Nakamura Y., Asaka I., Akimoto K., Saito M.K., Hayashi Y.
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations.
Stem Cell Res. 53:102337-102337(2021)

Cross-references
Cell line collections (Providers) RCB; HPS1090
Cell line databases/resources hPSCreg; BRCi012-A
Encyclopedic resources Wikidata; Q94219502
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8