ID   HPS1090
AC   CVCL_UP33
SY   BRCi012-A; CiRA-j-0042-A
DR   hPSCreg; BRCi012-A
DR   RCB; HPS1090
DR   Wikidata; Q94219502
RX   PubMed=33901816;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Arg401Trp (c.1201C>T); ClinVar=VCV000488393; Zygosity=Hemizygous (PubMed=33901816).
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_A3SS ! HPS1091
OI   CVCL_A3ST ! HPS1092
OI   CVCL_A3SU ! HPS1093
OI   CVCL_A3SV ! HPS1094
OI   CVCL_A3SW ! HPS1095
SX   Male
AG   <10Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=33901816; DOI=10.1016/j.scr.2021.102337;
RA   Kuramochi Y., Awaya T., Matsuo-Takasaki M., Takami M., An Y., Li J.-Y.,
RA   Hemmi Y., Wakabayashi T., Arai Y., Inoue J., Noguchi M., Nakamura Y.,
RA   Asaka I., Akimoto K., Saito M.K., Hayashi Y.;
RT   "Generation of two human induced pluripotent stem cell lines derived
RT   from two X-linked adrenoleukodystrophy patients with ABCD1
RT   mutations.";
RL   Stem Cell Res. 53:102337-102337(2021).
//