ID   AG28462
AC   CVCL_C7PE
SY   AG28462*B
DR   Coriell; AG28462
DR   Wikidata; Q123030658
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1483+27_1483+37del (c.1483+25del11) (g.2746del11); ClinVar=VCV002431799; Zygosity=Homozygous (Coriell=AG28462).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3335; Rothmund-Thomson syndrome
DI   ORDO; Orphanet_2909; Rothmund-Thomson syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_X816 ! AG18371
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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