ID   HPS1096
AC   CVCL_UP34
SY   BRCi013-A; CiRA-j-0043-A
DR   hPSCreg; BRCi013-A
DR   RCB; HPS1096
DR   Wikidata; Q94219507
RX   PubMed=33901816;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Leu670Phefs*63 (c.2010_2014delinsTAT); 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_A3SX ! HPS1097
OI   CVCL_A3SY ! HPS1098
OI   CVCL_A3SZ ! HPS1099
OI   CVCL_A3TA ! HPS1100
OI   CVCL_A3TB ! HPS1101
SX   Male
AG   10-19Y
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).
//