ID   HPS1093
AC   CVCL_A3SU
SY   BRCi012-D
DR   hPSCreg; BRCi012-D
DR   RCB; HPS1093
DR   Wikidata; Q105507768
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Arg401Trp (c.1201C>T); ClinVar=VCV000488393; Zygosity=Hemizygous (from autologous cell line HPS1090).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61252; Adrenoleukodystrophy
DI   ORDO; Orphanet_139396; X-linked cerebral adrenoleukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UP33 ! HPS1090
OI   CVCL_A3SS ! HPS1091
OI   CVCL_A3ST ! HPS1092
OI   CVCL_A3SV ! HPS1094
OI   CVCL_A3SW ! HPS1095
SX   Male
AG   <10Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
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