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Cellosaurus HPS1092 (CVCL_A3ST)

[Text version]
Cell line name HPS1092
Synonyms BRCi012-C
Accession CVCL_A3ST
Resource Identification Initiative To cite this cell line use: HPS1092 (RRID:CVCL_A3ST)
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 (from autologous cell line HPS1090).
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_UP33 ! HPS1090
CVCL_A3SS ! HPS1091
CVCL_A3SU ! HPS1093
CVCL_A3SV ! HPS1094
CVCL_A3SW ! HPS1095
Sex of cell Male
Age at sampling <10Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) RCB; HPS1092
Cell line databases/resources hPSCreg; BRCi012-C
Encyclopedic resources Wikidata; Q105507767
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number6