| Catalog ID | Description | Parent Line | iPSC | Sex | Age | Race | Affected Status | Gene(s) | Mutation(s) | Relationship to Proband | Family |
| NA06111 | APPARENTLY HEALTHY FETAL TISSUE | GM06111 | GM23396 GM23716 | Female | 16 FW | Black/African American | No | | | proband | 911 |
| NA06112 | APPARENTLY HEALTHY FETAL TISSUE | GM06112 | GM23413 | Female | 16 FW | Black/African American | No | | | proband | 911 |
| NA06113 | APPARENTLY HEALTHY FETAL TISSUE | GM06113 | GM23450 | Male | 20 FW | Black/African American | No | | | proband | 910 |
| NA06114 | APPARENTLY HEALTHY FETAL TISSUE | GM06114 | GM23392 | Male | 20 FW | Black/African American | No | | | proband | 910 |
| NA02254 | APPARENTLY HEALTHY INDIVIDUAL | GM02254 | GM23720 | Female | 22 YR | White | No | | | proband | 3045 |
| NA04506 | APPARENTLY HEALTHY INDIVIDUAL | GM04506 | GM23476 | Female | 20 YR | White | No | | | twin sister | 732 |
| NA25383 | CHOROIDEREMIA; CHM | GM25383 | GM26663 | Male | 20 YR | White | Yes | CHM | ARG270TER (Mono), c.116+215insCCTTT (Mono), c.116+80C>T (Mono) | proband | 3210 |
| NA25393 | CHOROIDEREMIA; CHM | GM25393 | GM26650 | Male | 57 YR | White | Yes | CHM | ALA117ALA (Mono), c.189+1G>T (Mono) | proband | 3214 |
| NA01014 | CYSTIC FIBROSIS; CF | GM01014 | GM24683 | Male | 13 YR | White | Yes | CFTR | PHE508DEL (Bi) | proband | 93 |
| NA02417 | DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM | GM02417 | GM23226 | Female | 42 YR | American Indian/Alaska Native | Yes | | | proband | 383 |
| NA04602 | DYSTROPHIA MYOTONICA 1; DM1 | GM04602 | GM24559 | Female | 2 YR | White | Yes | DMPK | (CTG)n EXPANSION (Mono) | daughter | 583 |
| NA10269 | EPIDERMOLYSIS BULLOSA: DYSTROPHIC, JUNCTIONAL, OR SIMPLEX TYPES | GM10269 | GM26017 | Male | 4 YR | White | Yes | | | proband | 1186 |
| NA03816 | FRIEDREICH ATAXIA 1; FRDA | GM03816 | GM23404 | Female | 36 YR | White | Yes | FXN | (GAA)n EXPANSION (Bi) | proband | 594 |
| NA04079 | FRIEDREICH ATAXIA 1; FRDA | GM04079 | GM23913 | Male | 30 YR | White | Yes | FXN | (GAA)n EXPANSION (Bi) | brother | 594 |
| NA04282 | HUNTINGTON DISEASE; HD | GM04282 | GM23225 | Female | 20 YR | White | Yes | | | proband | 690 |
| NA00798 | HURLER SYNDROME | GM00798 | GM26656 | Female | 1 YR | White | Yes | IDUA | TRP402TER (Bi) | proband | 41 |
| NA06224 | KEARNS-SAYRE SYNDROME; KSS | GM06224 | | Male | 10 YR | White | Yes | | | proband | 931 |
| NA06805 | KRABBE DISEASE | GM06805 | GM26644 | Female | 2 YR | White | Yes | GALC | 30-KB DEL, IVS10 (Bi) | proband | 962 |
| NA01662 | LESCH-NYHAN SYNDROME; LNS | GM01662 | GM25541 | Male | 9 YR | White | Yes | HPRT1 | EX2-3DUP, IVS1DEL (Mono) | proband | 72 |
| NA06097 | MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS | GM06097 | GM26025 | Female | 1 YR | White | Yes | | | proband | 3360 |
| NA04569 | MUSCULAR DYSTROPHY, BECKER TYPE; BMD | GM04569 | GM23230 | Male | 38 YR | White | Yes | | | proband | 591 |
| NA04981 | MUSCULAR DYSTROPHY, BECKER TYPE; BMD | GM04981 | GM23262 | Male | 6 YR | White | Yes | DMD | EX45-53DEL (Mono) | proband | 2975 |
| NA23311 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | GM23311 | GM23717 | Female | 3 YR | White | Yes | LAMA2 | 2049_2050delAG (Mono), ARG2578TER (Mono) | proband | 3006 |
| NA05112 | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | GM05112 | GM05113 GM25313 | Male | 13 YR | White | Yes | DMD | EX45DEL (Mono) | proband | 282 |
| NA03124 | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM03124 | GM25864 | Female | 9 YR | White | Yes | NPC1 | c.1947+5G>C (Mono), ILE1061THR (Mono), PRO237SER (Mono) | proband | 451 |
| NA23248 | PERSONAL GENOME PROJECT | GM23248 | GM23338 | Male | 55 YR | White | No | | | proband | 2980 |
| NA24143 | PERSONAL GENOME PROJECT | GM24143 | GM26077 | Female | 74 YR | White | Unknown | | | mother | 3140 |
| NA24385 | PERSONAL GENOME PROJECT | GM24385 | GM26105 | Male | 45 YR | White | Unknown | | | proband | 3140 |
| NA24631 | PERSONAL GENOME PROJECT | GM24631 | GM26107 | Male | 33 YR | Asian | Unknown | | | proband | 3150 |
| NA01792 | SCHIZOPHRENIA; SCZD | GM01792 | GM23760 | Male | 26 YR | White | Yes | | | proband | 119 |
| NA01835 | SCHIZOPHRENIA; SCZD | GM01835 | GM23761 | Female | 27 YR | White | Yes | | | sister | 119 |
| NA02497 | SCHIZOPHRENIA; SCZD | GM02497 | GM23762 | Male | 23 YR | White | Yes | | | proband | 176 |
| NA02503 | SCHIZOPHRENIA; SCZD | GM02503 | GM23764 | Female | 27 YR | White | Yes | | | sister | 176 |
| NA01390 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | GM01390 | GM23232 | Male | 3 MO | White | Yes | ADA | GLY216ARG (Mono) | proband | 2974 |
| NA03813 | SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | GM03813 | GM23240 GM24468 | Male | 3 YR | White | Yes | SMN1 | EX7-8DEL (Bi) | proband | 553 |
| NA03814 | SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | GM03814 | GM24474 | Female | | White | No | SMN1 | EX7-8DEL (Mono) | mother | 553 |
| NA11852 | TAY-SACHS DISEASE; TSD | GM11852 | GM23937 GM28966 | Male | 1 YR | White | Yes | HEXA | c.1274_1277dupTATC (Bi) | proband | 1448 |
| NA06102 | TUBEROUS SCLEROSIS 2; TSC2 | GM06102 | GM06101 GM25318 | Female | 26 YR | White | Yes | TSC2 | ARG1743GLN (Mono) | proband | 2501 |