ID   HPS1098
AC   CVCL_A3SY
SY   BRCi013-C
DR   hPSCreg; BRCi013-C
DR   RCB; HPS1098
DR   Wikidata; Q105507782
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 61; ABCD1; Simple; p.Leu670Phefs*63 (c.2010_2014delinsTAT); Zygosity=Hemizygous (from autologous cell line HPS1096).
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_UP34 ! HPS1096
OI   CVCL_A3SX ! HPS1097
OI   CVCL_A3SZ ! HPS1099
OI   CVCL_A3TA ! HPS1100
OI   CVCL_A3TB ! HPS1101
SX   Male
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
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